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List of works by Jean-Laurent Casanova

4 Primary immunodeficiency mutation databases

article

A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation

scientific article published on 9 October 2013

A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation

scientific article published on 02 July 2020

A 44-Year-Old Female With Overwhelming Sepsis

scientific article published in 2019

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo

scientific article published on 01 August 2018

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

scientific article published on 29 November 2018

A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

scientific article published on 01 December 2006

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

scientific article published on 31 October 2018

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

scientific article published on 2 October 2013

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression

scientific article published on 19 December 2015

A New Patient with Inherited TYK2 Deficiency

scientific article published on 11 November 2019

A Note from the Editor-in-Chief, Deputy Editor, and Managing Editor

scientific article published on 01 February 2015

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

scientific article published on 05 February 2019

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

scientific article published in March 1998

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

scientific article published on 13 February 2019

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

scientific article published on 25 July 2019

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency

scientific article published on 09 January 2020

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

scientific article published on 09 June 2017

A genome-wide association study of pulmonary tuberculosis in Morocco

scientific article published on 14 January 2016

A genome-wide case-only test for the detection of digenic inheritance in human exomes

scientific article published on 27 July 2020

A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection

scientific article published on 13 May 2020

A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis

scientific article published on 5 June 2015

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

scientific article published on 26 May 2015

A human inborn error connects the α's

scientific article published on April 2016

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

scientific article

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

scientific article published on 20 April 2022

A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection

scientific article

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

scientific article published in 2012

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

scientific article

A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata.

scientific article published on 23 June 2018

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

scientific article published on February 2007

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells

scientific article

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

scientific article

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

scientific article published on 3 June 2004

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

scientific article

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

scientific article published on 25 May 2013

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

scientific article

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

scientific article

A novel kindred with inherited STAT2 deficiency and severe viral illness

scientific article published on 5 January 2017

A novel mutation in the POLE2 gene causing combined immunodeficiency.

scientific article published on 11 September 2015

A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.

scientific article

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

scientific article published on 12 April 2020

A partial form of recessive STAT1 deficiency in humans

scientific article

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome

scientific article

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

scientific article

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 February 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 November 2018

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.

scientific article

A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo

scientific article published on 4 March 2008

A serpin shapes the extracellular environment to prevent influenza A virus maturation

scientific article

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

scientific article

A three-dimensional model of human lung development and disease from pluripotent stem cells.

scientific article published on 24 April 2017

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

scientific article published on 10 April 2020

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

scientific article published on 21 June 2021

A virus finds its natural killer

scientific article published in May 2001

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

scientific article published on 14 November 2016

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

scientific article published on 14 May 2011

Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.

scientific article

Adaptive immunity by convergent evolution

scientific article

Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

scientific article published on 18 February 2014

Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood

scientific article published on 31 May 2010

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

scientific article published on 14 February 2013

Agranulocytose et déficit immunitaire transitoires après exposition fœtale à l'azathioprine et mésalazine

scientific article published on 01 October 1999

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

scientific article published on 14 December 2016

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

scientific article

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

scientific article published on 10 October 2013

An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults

scientific article

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

scientific article published on 9 October 2017

An essential role for the Zn2+ transporter ZIP7 in B cell development

scientific article published on 04 February 2019

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome

scientific article

Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis

article

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia

article

Antigen-selected T-cell receptor diversity and self-nonself homology

scientific article published on August 1993

Approach to recurrent Herpes Simplex Encephalitis in children.

scientific article published on 12 June 2018

Arid5a makes the IL-17A/F-responsive pathway less arid

article by Anne Puel et al published 9 October 2018 in Science Signaling

Association between IFNA genotype and the risk of sarcoidosis

scientific article published on 5 March 2004

Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020

scientific article published on 01 December 2020

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

scientific article

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

scientific article

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

scientific article

Autoantibodies against cytokines: back to human genetics ⬇️

scientific article published on February 21, 2013

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

scientific article published in 2024

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

scientific article published on 04 December 2003

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

scientific article published on 06 March 2020

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

scientific article

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

scientific article published on 18 May 2018

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

scientific article published on April 2017

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

scientific article published on July 2012

Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

scientific article published on 01 April 2006

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

scientific article published on 30 June 2020

Autosomal-dominant primary immunodeficiencies

scientific article

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scientific article

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

scientific article

BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency

scientific article published on 20 November 2019

BCG-osis and tuberculosis in a child with chronic granulomatous disease

scholarly article by Jacinta Bustamante et al published July 2007 in The Journal of Allergy and Clinical Immunology

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

scientific article

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

scientific article published on 01 November 2004

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

scientific article published on 05 November 2018

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Biased amino acid distributions in regions of the T cell receptors and MHC molecules potentially involved in their association

scientific article published in September 1991

Binding of low concentration of peptide to H-2Kd produced in insect cells requires mouse beta 2-microglobulin co-expression

scientific article

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

scientific article published on 27 December 2018

Burkholderia pseudomallei infection in chronic granulomatous disease

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

scientific article published on 27 June 2018

Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies?

article by László Maródi & Jean-Laurent Casanova published May 2010 in Nature Reviews Immunology

Can the impact of human genetic variations be predicted?

scientific article

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

scientific article published on 17 July 2019

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia

scientific article published on 14 November 2016

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

scientific article published on 04 June 2007

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

scientific article published on 18 July 2016

Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl

Chronic Disseminated Salmonellosis in a Patient with Interleukin- 12p40 Deficiency

scientific article published on 18 July 2017

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

scientific article

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

scientific article published on 5 March 2014

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity

scientific article published on 02 December 2016

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

scientific article

Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds

scientific article

Cleaved/associated TLR3 represents the primary form of the signaling receptor

scientific article published on 19 December 2012

Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-gamma) pathway

scientific article

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

scientific article

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

scientific article

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency

scientific article

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

scientific article published in The Lancet

Clinical immunology Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-γ receptor 1 deficiency

scholarly article by Malgorzata Pac et al published 2012 in Central-European Journal of Immunology

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

scientific article

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

scientific article published on 23 December 2016

Comment on "Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency".

scientific article published in September 2009

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

scientific article published on 02 June 2020

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

scientific article published on 14 July 2008

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features

scientific article published on 24 February 2006

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

scientific article

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

scientific article

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 01 January 2020

Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

scientific article published on 01 July 2019

Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation

scientific article published on 04 May 2020

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Correction: Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria

scientific article published on 18 May 2017

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

scholarly article published in Seminars in Immunology

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

scientific article published on 2 March 2018

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

scientific article published on 16 April 2015

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

scientific article

Cutaneous infection with Metarhizium anisopliae in a patient with hypohidrotic ectodermal dysplasia and immune deficiency

scientific article

Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency

scientific article published in March 2006

Cutting edge: the UNC93B1 tyrosine-based motif regulates trafficking and TLR responses via separate mechanisms

scientific article published on 3 September 2014

DOCK8 Drives Src-Dependent NK Cell Effector Function

scientific article published on 9 August 2017

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

scientific article

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System

scientific article

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

scientific article published on 20 August 2016

Deep dermatophytosis and inherited CARD9 deficiency

scientific article

Defective priming of the phagocyte oxidative burst in a child with recurrent intracellular infections

scientific article

Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency

article

Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy

scientific article published on 04 August 2019

Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings

scientific article published on March 2015

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data

scientific article

Definition of primary immunodeficiency in 2011: a “trialogue” among friends

article published in 2011

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

scientific article

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Differential response to interferon-γ therapy in a family with dominant negative partial interferon-γ receptor1 deficiency

Differential response to interferon-γ therapy in a family with dominant negative partial interferon-γ receptor1 deficiency

article

Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4-MyD88 Complex

scientific article published on 18 March 2019

Discovery of single-gene inborn errors of immunity by next generation sequencing

scientific article

Disentangling inborn and acquired immunity in human twins

scientific article published on January 2015

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

scientific article published on July 2016

Disseminated BCG osteomyelitis related to STAT 1 gene deficiency mimicking a metastatic neuroblastoma

scientific article published on 28 March 2016

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

scientific article published on 27 January 2017

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature

scientific article published on 05 August 2019

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India

scientific article published on 9 June 2015

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency

scientific article

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

scientific article

Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency

scientific article published in April 2003

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency

scientific article published on 31 October 2009

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

scientific article published on 6 December 2017

Disseminated bacillus Calmette-Guérin infection and immunodeficiency

scientific article published on May 2007

Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

article by Maria N. Tsolia et al published 7 April 2006 in European Journal of Pediatrics

Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency

scientific article published on 13 November 2019

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

scientific article published on 7 June 2012

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency

scientific article published on 18 January 2019

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

ENTEROVIRAL MENINGOENCEPHALITIS IN X-LINKED AGAMMAGLOBULINEMIA: INTENSIVE IMMUNOGLOBULIN THERAPY AND SEQUENTIAL VIRAL DETECTION IN CEREBROSPINAL FLUID BY POLYMERASE CHAIN REACTION

scientific article published on 01 November 2000

EVER2 deficiency is associated with mild T-cell abnormalities

scientific article published on 19 August 2012

Early ''relapse'' after herpetic encephalitis: extensive white matter lesions in an infant with interferon production deficit

scientific article published on 23 December 2010

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient

scientific article published on 28 September 2018

Editorial

Editorial for JoCI.

scientific article

Editorial, Journal of Clinical Immunology

scientific article published on 01 November 2019

Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease : a case report

scientific article published on 13 February 2020

Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome

scientific article published on 28 January 2020

Efficacy of gene therapy for X-linked severe combined immunodeficiency

scientific article

Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment

scientific article

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

scientific article published on 20 July 2018

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

scientific article published on 12 June 2018

Epithelial barrier dysfunction in desmoglein-1 deficiency

scientific article published on 27 April 2018

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

scientific article published on 26 April 2016

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scholarly article published in Journal of Clinical Immunology

Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scholarly article by Irene Puga et al published February 2014 in Nature Immunology

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article published in Nature

Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

scientific article published on 3 June 2008

Evolution of the Definition of Primary Immunodeficiencies

Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense

scientific article

Evolutionary genetic dissection of human interferons

scientific article published on 12 December 2011

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

scientific article published on 2 August 2006

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Experimental and natural infections in MyD88‐ and IRAK‐4‐deficient mice and humans ⬇️

scientific article published on December 1, 2012

Expression and characterization of recombinant mouse beta 2-microglobulin type a in insect cells infected with recombinant baculoviruses

scientific article published on June 1991

Extensive structural homology between H-2 K/D/L antigens and non-polymorphic class I Qa, Tla and “37” molecules suggests they may act as peptide carriers

scientific article published on 01 February 1989

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

scientific article

Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes

scientific article published in December 2006

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

scientific article published on 01 January 2020

Fatal varicella associated with selective natural killer cell deficiency

scientific article published on 01 March 2005

Forward genetics of infectious diseases: immunological impact

article

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

scientific article published on 15 May 2020

From idiopathic infectious diseases to novel primary immunodeficiencies

From infectious diseases to primary immunodeficiencies

scientific article published on May 2008

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

scientific article

Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis

scientific article published on 11 June 2020

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation

scientific journal article

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

article

Fungal infections and congenital immune deficiencies

scientific article

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.

scientific article published on 13 November 2017

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

scientific article

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

scientific article published on 27 September 2016

Gain-of-glycosylation mutations

scientific article published on 30 April 2007

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gains of glycosylation mutations

scientific article

Gamma interferon is dispensable for neopterin production in vivo

scientific article

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

scientific article published on 13 June 2016

Genetic and molecular definition of complementation group D in MHC class II deficiency

scientific article published on May 1998

Genetic dissection of immunity in leprosy

scientific article

Genetic dissection of immunity to mycobacteria: the human model

scientific article

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

scientific article published on 12 August 2015

Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection

scientific article

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

scientific article published in December 2011

Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance

scientific article

Genetic predisposition to herpetic meningo-encephalitis in children ⬇️

scientific article published on June 1, 2010

Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans

scientific article published on December 2007

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

scientific article published on 10 February 2020

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

scientific article published on 07 December 2016

Genetics and immunity of tuberculosis

scientific article

Genome-wide Innate Immune Responsiveness Profiles of Patients with Inborn Errors of Toll-like Receptor Signaling

scholarly article by Laia Alsina et al published January 2010 in Clinical Immunology

Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection

scientific article

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

scientific article

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

scientific article

Glycosylation-Dependent IFN-γR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation.

scientific article published on 3 August 2016

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

scientific article

Growth of Mycobacterium bovis, Bacille Calmette-Guérin, within human monocytes-macrophages cultured in serum-free medium

scientific article published on 01 May 1999

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

scientific article

Génétique humaine de la tuberculose : un spectre continu de la prédisposition monogénique simple à l'hérédité polygénique complexe

scientific article published on 01 October 2001

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

scientific article

HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency

scientific article

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

scientific article published on 16 November 2012

Helper T cell immunity in humans with inherited CD4 deficiency

scientific article published in 2024

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections

scientific article published on 12 December 2017

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Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

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Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

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High risk of infectious disease caused by salmonellae and mycobacteria infections in patients with Crohn disease treated with anti-interleukin-12 antibody

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Hodgkin lymphoma in 2 children with chronic granulomatous disease

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Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

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Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

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Host genetics of severe influenza: from mouse Mx1 to human IRF7

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Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

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Human BCL10 Deficiency due to Homozygosity for a Rare Allele

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Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors

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Human CRY1 variants associate with attention deficit/hyperactivity disorder

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Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

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Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

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Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

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Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

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Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency

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Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?

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Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

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Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

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Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

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Human TBK1 is required for early autophagy induction upon HSV1 infection

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Human TET2 bridges cancer and immunity

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Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses

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Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

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Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

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Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

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Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

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Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection

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Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism

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Human inborn errors of immunity: An expanding universe

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Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

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Human plasma cells express granzyme B.

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IFN-gamma and IL-12 differentially regulate CC-chemokine secretion and CCR5 expression in human T lymphocytes

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IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts

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IFN-gamma regulates Fas ligand expression in human CD4+ T lymphocytes and controls their anti-mycobacterial cytotoxic functions

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IL-12 drives functional plasticity of human group 2 innate lymphoid cells

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IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans

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IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation

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IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

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IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

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IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells

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IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

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Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

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IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

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Inborn errors of metabolism underlying primary immunodeficiencies

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Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

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Inborn errors of the development of human natural killer cells

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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

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Inborn errors underlying herpes simplex encephalitis: From TLR3 to IRF3.

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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

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Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies

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Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français

scientific article published on 12 January 2007

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency

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Infections caused by BCG and atypical mycobacteria in children: a new group of immune deficiencies

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Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

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Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency

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Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

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Inheritable defects in interleukin-12- and interferon-gamma-mediated immunity and the TH1/TH2 paradigm in man.

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Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

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Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections

scientific article published on 15 January 2020

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults

scholarly article by Emilie Corvilain et al published August 2018 in Journal of Clinical Immunology

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scientific article published on 23 July 2014

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both

scientific article published on 19 February 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

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Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

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Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

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Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

scientific article published on 27 April 2015

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

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Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

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Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

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Inherited human IFNγ deficiency underlies mycobacterial disease

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Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

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Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

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Inherited p40phox deficiency differs from classic chronic granulomatous disease

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Interaction of Pattern Recognition Receptors with Mycobacterium Tuberculosis

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Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection

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scientific article published on 18 April 2024

Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors

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Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans

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Interleukin 1/Toll-like receptor-induced autophosphorylation activates interleukin 1 receptor-associated kinase 4 and controls cytokine induction in a cell type-specific manner

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Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses

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Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis

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Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

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Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

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Invasive pneumococcal disease in children can reveal a primary immunodeficiency

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Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

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JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

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Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8

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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

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Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

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Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study

scientific article published on 03 June 2020

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

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LUBAC: A new function in immunity

scientific article published on June 2014

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

scientific article published on 4 March 2018

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

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Lessons learned from the study of human inborn errors of innate immunity

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Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories

scientific article published on 14 April 2020

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

scientific article published on 01 May 2018

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency

scientific article published on 13 April 2011

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

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Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation

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Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

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Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

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Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

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Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

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Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

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MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY

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Macrophages induce differentiation of plasma cells through CXCL10/IP-10

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Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

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Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

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Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling

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Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

scientific article published on 16 June 2017

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

scientific article published on 30 June 2020

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

scientific article published on 27 March 2018

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

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Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

scientific article published on March 2016

Mendelian predisposition to herpes simplex encephalitis

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Mendelian susceptibility to mycobacterial disease in egyptian children

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Mendelian susceptibility to mycobacterial disease: 2014-2018 update

scientific article published on 25 October 2018

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

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Mendelian susceptibility to mycobacterial infection in man

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Mendelian traits that confer predisposition or resistance to specific infections in humans

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Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

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Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer

scientific article published on 30 April 2018

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

scientific article published on 03 October 2012

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

scientific article published on 04 February 2019

Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child

scientific article published on 01 November 2021

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

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More than Meets the Eye: Monogenic Autoimmunity Strikes Again

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Most residues on the floor of the antigen binding site of the class I MHC molecule H-2Kd influence peptide presentation

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Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications

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Multibatch Cytometry Data Integration for Optimal Immunophenotyping

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Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review

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Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect

scientific article published on 29 February 2012

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency

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Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36 receptor antagonist and is associated with DITRA syndrome.

scientific article published on 11 June 2017

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

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Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

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Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

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Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

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Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.

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Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

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Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

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Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent with Inherited STAT1 Deficiency

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Mycobacterium szulgai chronic multifocal osteomyelitis in an adolescent with inherited STAT1 deficiency

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NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

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NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

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Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

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New frontiers in immunology. Workshop on the road ahead: future directions in fundamental and clinical immunology

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New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

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Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels

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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

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Novel human immunodeficiencies reveal the essential role of type-I cytokines in immunity to intracellular bacteria

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Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes

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Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

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Novel primary immunodeficiency candidate genes predicted by the human gene connectome

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Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

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Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome

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Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

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Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency

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Optimal conditions for directly sequencing double-stranded PCR products with sequenase

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Orf Infection in a Patient with Stat1 Gain-of-Function

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Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

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Outbreak of Kawasaki disease in children during COVID-19 pandemic: a prospective observational study in Paris, France

scientific article published on 14 May 2020

PAX1 is essential for development and function of the human thymus

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Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor

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Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

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Parsing the Interferon Transcriptional Network and Its Disease Associations

scientific article published on January 2016

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

scientific article published on 20 August 2013

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

scientific article published on 22 February 2012

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

scientific article

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

article by Despina Moshous et al published 1 February 2003 in Journal of Clinical Investigation

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

scientific article

Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity

scientific article published on 14 September 2020

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies

scientific article published on 6 October 2017

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

scientific article published on 19 February 2020

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

scientific article published on 24 December 2014

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

scientific article

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review

scientific article

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

scholarly article by Peng Zhang et al published 15 December 2018 in Bioinformatics

Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9.

scientific article published on February 2015

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

scientific article published on December 2015

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco

scientific article published on 15 August 2019

Primary Cytomegalovirus Infection, Atypical Kawasaki Disease, and Coronary Aneurysms in 2 Infants

scientific article published on 21 July 2005

Primary Immune Deficiencies Presenting in Adults: Seven Years of Experience from Iran

article

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

scientific article

Primary immunodeficiencies associated with pneumococcal disease

scientific article published on December 2003

Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments

scientific article published on 12 October 2010

Primary immunodeficiencies of protective immunity to primary infections

scientific article published on 16 March 2010

Primary immunodeficiencies underlying fungal infections

scientific article

Primary immunodeficiencies: 2009 update

scientific article

Primary immunodeficiencies: a field in its infancy

scientific article

Primary immunodeficiencies: a rapidly evolving story

scientific article published on February 2013

Primary immunodeficiencies: increasing market share

article

Primary immunodeficiency diseases worldwide: more common than generally thought

scientific article

Primary immunodeficiency diseases: an update

scientific article published in September 2004

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

scientific article

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

scientific article (publication date: April 2006)

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published in 2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published on 8 November 2011

Primary immunodeficiency diseases: the J Project

scientific article published in The Lancet

Propionibacterium acnes Chest Infections in Patients with Chronic Granulomatous Disease: Case Reports

scientific article published in 2002

Proteomics in immunity and herpes simplex encephalitis

scientific article

Prédisposition génétique et infections de l'enfant

scientific article published on 01 September 2006

Publisher Correction: IGF1R is an entry receptor for respiratory syncytial virus

scientific article published on 19 June 2020

Pulmonary manifestations of chronic granulomatous disease

scientific article published on February 2013

Purpura fulminans méningococcique : rencontre malheureuse de polymorphismes génétiques ?

scientific article published on 01 August 2001

Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rβ1 deficiency

scientific article published on 4 November 2014

Pyogenic bacterial infections in humans with IRAK-4 deficiency

scientific article (publication date: 28 March 2003)

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

Real-time measurement of antigenic peptide binding to empty and preloaded single-chain major histocompatibility complex class I molecules

scholarly article by David M. Ojcius et al published May 1993 in European Journal of Immunology

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

scientific article published in 2022

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency

scientific article published on 17 May 2019

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

scholarly article published 4 June 2014

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

scientific article published on 30 May 2017

Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.

scientific article published in December 2004

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

scientific article

Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.

scientific article published on January 2008

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

scientific article published on 9 June 2010

Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy

scientific article

Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells

scientific article (publication date: March 2002)

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

scientific article published on 18 December 2018

Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients

scientific article published on June 2004

Revisiting Crohn's disease as a primary immunodeficiency of macrophages

scientific article

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

scientific article

Revisiting human primary immunodeficiencies

scientific article published on 09 June 2008

Rhinoscleroma: a French national retrospective study of epidemiological and clinical features

scientific article

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

Ruxolitinib Response in an Infant with Very-Early-Onset Inflammatory Bowel Disease and Gain-of-Function STAT1 Mutation

scientific article published on 28 July 2020

STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.

scientific article published on 17 October 2017

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

scientific article published on 4 May 2015

STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy

scientific article published on 16 July 2014

Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.

scientific article published on 28 September 2013

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

scientific article

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria

scientific article published on 12 May 2017

Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation

scientific article

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

scientific article published on 01 July 2019

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl

scholarly article by Ana Esteve-Sole et al published 23 July 2018 in Journal of Clinical Immunology

Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?

scientific article published on 18 June 2020

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

scientific article

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scientific article

Severe aplastic anemia of neonatal onset: a single-center retrospective study of six children

scientific article

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

scientific article published on January 2006

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

scientific article published in June 2004

Severe infectious diseases of childhood as monogenic inborn errors of immunity

scientific article

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

scientific article

Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency

scientific article published on 31 March 2005

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

scientific article published on 16 December 2013

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia

scientific article

Single-cell PCR analysis of TCR repertoires selected by antigen in vivo: a high magnitude CD8 response is comprised of very few clones.

scientific article published in January 1996

Staphylococcal Pericarditis, and Liver and Paratracheal Abscesses as Presentations in Two New Cases of Interleukin-1 Receptor Associated Kinase 4 Deficiency

scientific article published on 01 February 2008

Stem cell transplantation for immunodeficiency

scientific article published on 01 January 1998

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

scientific article

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

scientific article published on 22 May 2006

Susceptibilité génétique et infection chez l’enfant

scientific article published on 01 June 2009

Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.

scientific article published on March 2017

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

scientific article published on 01 May 2020

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

scientific article

T-cell Responses to HSV-1 in Persons Who Have Survived Childhood Herpes Simplex Encephalitis

scientific article published on 3 May 2017

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

TLR-mediated inflammatory responses to Streptococcus pneumoniae are highly dependent on surface expression of bacterial lipoproteins

scientific article

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

scientific article

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

TLR3 immunity to infection in mice and humans

scientific article published on 3 January 2013

TLR8-mediated NF-κB and JNK Activation Are TAK1-independent and MEKK3-dependent

scientific article published in Journal of Biological Chemistry

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article published on 11 December 2017

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

scientific article published on 17 March 2020

The Journal of Clinical Immunology: an international journal for primary immunodeficiencies and related human immunologic diseases

scientific article published in November 2013

The MHC class II-restricted T cell response of C57BL/6 mice to human C-reactive protein: homology to self and the selection of T cell epitopes and T cell receptors

scientific article published in February 1997

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

scientific article

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

scientific article

The Role of Human IL-17 Immunity in Fungal Disease

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

scientific article published in April 2011

The differential regulation of human ACT1 isoforms by Hsp90 in IL-17 signaling

scientific article

The diversity of antigen-specific TCR repertoires reflects the relative complexity of epitopes recognized

scientific article published on May 1997

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

scientific article

The genetic structure of the Turkish population reveals high levels of variation and admixture

scientific article published on 7 September 2021

The genetic theory of infectious diseases: a brief history and selected illustrations

scientific article published on 29 May 2013

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

The human gene connectome as a map of short cuts for morbid allele discovery

scientific article published on 18 March 2013

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

scientific article published on 27 May 2020

The human model: a genetic dissection of immunity to infection in natural conditions

scientific article published on January 2004

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

scientific article published on 29 February 2024

The interaction of antigenic peptides with the H-2Kd MHC class I molecule

scientific article

The kinase activity of IL-1 receptor-associated kinase 4 is required for interleukin-1 receptor/toll-like receptor-induced TAK1-dependent NFkappaB activation

scientific article published on 15 September 2008

The mutation significance cutoff: gene-level thresholds for variant predictions

scientific article published on January 2016

The nature of human IL-6

scientific article published on 24 June 2019

The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.

scientific article published in October 1998

The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis

scientific article published on 21 February 2013

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

scientific article published on 16 May 2022

The role of IL-12, IL-23 and IFN-gamma in immunity to viruses

scientific article published in October 2004

The role of interleukin-12 in human infectious diseases: only a faint signature

scientific article

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

scientific article

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

scientific article published on 22 June 2020

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

scientific article

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

scientific article published on 26 June 2020

Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency

scientific article

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

article

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities

scientific article

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Tuberculosis in children and adults: two distinct genetic diseases

scientific article published on December 2005

Tuberculosis: a new look at an old disease

scholarly article by Nima Rezaei et al published March 2011 in Expert Review of Clinical Immunology

Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis

scientific article

Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19

scientific article published on 24 August 2021

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

scientific article published on 11 July 2016

Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children

scientific article published on December 2016

Value of open lung biopsy in immunocompromised children

Variable outcome of experimental interferon-? therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12R?1-deficient Slovakian children

article

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

scientific article

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins

article

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency

scientific article

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

scientific article

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human

retracted paper

Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma

scientific article published on 9 December 2014

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

scientific article published on 31 May 2016

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

scientific article

Whole-exome-sequencing-based discovery of human FADD deficiency

scientific article

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

scientific article published on 31 March 2015

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

scientific article (publication date: March 2001)

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

scientific article

Yellow fever vaccine: worthy friend or stealthy foe?

scientific article

ZNF341 controls STAT3 expression and thereby immunocompetence

scientific article published on 01 June 2018

[Pathological consequences of excess of interferon in vivo]

scientific article published on 01 March 2019

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