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List of works by Capucine Picard

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

scientific article published on 01 December 2006

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

scientific article published on 2 October 2013

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

scientific article published on 6 June 2017

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

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 human immunodeficiency caused by mutations in the PIK3R1 gene

scientific article

A human immunodeficiency caused by mutations in the PIK3R1 gene

article

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency

scientific article

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

scientific article published on 25 May 2013

A polysaccharide virulence factor of a human fungal pathogen induces neutrophil apoptosis via NK cells

scientific article published on 30 April 2014

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

scientific article published on 01 June 2018

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

scientific article (publication date: 3 November 2011)

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

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

scientific article published on 10 October 2013

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

scientific article published on 25 July 2015

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

article

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

scientific article

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

scientific article published on 31 July 2012

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

B-cell subpopulations in children: National reference values

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

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

Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency

scientific article

Burkholderia pseudomallei infection in chronic granulomatous disease

CD21 deficiency in 2 siblings with recurrent respiratory infections and hypogammaglobulinemia

scientific article published on 10 May 2017

CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study

scientific article published on 3 October 2014

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

scientific article

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

scientific article published on 04 June 2007

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

scientific article

Characteristics of HIV-infected children recently diagnosed in Paris, France

article

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

scientific article published on 15 June 2014

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

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results

scientific article published on 01 April 2019

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

scientific article published on 21 April 2016

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 similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

scientific article published on 30 November 2010

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

scientific article published on 16 July 2016

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry

scientific article

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

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

scientific article published on 19 September 2019

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

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: 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: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article

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

scientific article

Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis

article

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

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

scientific article

Deep dermatophytosis and inherited CARD9 deficiency

scientific article

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

scientific article published on 26 June 2014

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

scientific article published on March 2015

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

scientific article

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

scientific article published on 14 September 2012

Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia

scientific article

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

scientific article published on 16 March 2018

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

scientific article published on 20 August 2018

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

scientific article published on 19 September 2016

EVER2 deficiency is associated with mild T-cell abnormalities

scientific article published on 19 August 2012

Early-onset hypogammaglobulinemia: A survey of 44 patients

scientific article published on 08 May 2015

Efficacy of gene therapy for X-linked severe combined immunodeficiency

scientific article

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

scholarly article published in Journal of Clinical Immunology

Evidence of innate lymphoid cell redundancy in humans

scientific article published on 12 September 2016

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

scientific article published on 27 October 2016

Evolution of the Definition of Primary Immunodeficiencies

Exome and genome sequencing for inborn errors of immunity

scientific article

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

scientific article published on December 1, 2012

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

Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1.

scientific article

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

scientific article

Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency

scientific article published on 14 November 2011

From idiopathic infectious diseases to novel primary immunodeficiencies

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

scientific article

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

scientific article published in December 2011

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey

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

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

scientific article

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

scientific article

Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs

scientific article published on 28 June 2011

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

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

scientific article published on 25 April 2019

Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency

scientific article published on May 2010

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

article by Joachim Roesler et al published December 2004 in The Journal of Pediatrics

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

scientific article published on 5 July 2017

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

scientific article

Heritable defects of the human TLR signalling pathways

scientific article

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

scientific article published on 21 November 2011

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

scientific article

Herpes simplex virus encephalitis in human UNC-93B deficiency

scientific article

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

scientific article published on 14 July 2016

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

scientific article

Hodgkin lymphoma in 2 children with chronic granulomatous disease

scientific article

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

scientific article

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

scientific article published on February 2017

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

scientific article published on 9 September 2010

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

scientific article published on 25 May 2015

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

scientific article published on 01 January 2020

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

scientific article published on 17 January 2020

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

scientific article (publication date: 4 September 2012)

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

scientific article

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

scientific article

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

scientific article

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

scientific article

Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses

scientific article published on December 2007

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

scientific article

Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP

scientific article published on 06 December 2012

Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral

Human monogenic disorders that confer predisposition to specific infections.

scientific article published on January 2007

Human plasma cells express granzyme B.

scientific article

Human primary immunodeficiencies of type I interferons

scientific article published on 8 May 2007

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

scientific article published in July 2009

ICON: the early diagnosis of congenital immunodeficiencies

scientific article published on 12 March 2014

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

scientific article published on 24 October 2013

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

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

scientific article

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

scientific article

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

scientific article

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

scientific article published on 20 October 2020

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

scientific article

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

scientific article published on September 2006

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

scientific article (publication date: 13 December 2012)

Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: An eight-year follow-up

article by Nicolas Daguindau et al published August 2008 in Clinical Immunology

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

scientific article

Immunity to infection in IL-17-deficient mice and humans

scientific article published on September 2012

Immunodeficiency due to mutations in ORAI1 and STIM1.

scientific article published on March 2010

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

scientific article

Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients

scientific article published on 14 August 2007

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation

scientific article published on 12 March 2020

Imported African histoplasmosis in an immunocompetent patient 40 years after staying in a disease-endemic area

scientific article

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

scientific article published on 07 August 2017

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

scientific article published on 25 September 2006

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

scientific article published on December 2012

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

scientific article published on December 2008

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

scientific article published on 30 July 2010

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

article published in the Proceedings of the National Academy of Sciences of the United States of America

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

scientific article published on 15 February 2019

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

scientific article

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

scientific article

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

scientific article

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

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 CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

scientific article published on 23 December 2016

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

scientific article published on 17 April 2017

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

scientific article published on March 2013

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

scientific article published on 27 April 2015

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

scientific article

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

scientific article

Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children

scientific article published on 23 August 2005

Inherited disorders of IFN-γ-, IFN-α/β-, and NF-κB-mediated immunity

Inherited disorders of NF-kappaB-mediated immunity in man.

scientific article published on February 2004

Inherited disorders of cytokines

scientific article

Inherited disorders of human Toll-like receptor signaling: immunological implications.

scientific article

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Inherited human IRAK-4 deficiency: an update.

scientific article published on January 2007

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

scientific article published on 29 July 2013

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

scientific article published on 17 December 2001

Innate immunity primary immunodeficiencies and infections

scientific article published on 3 June 2016

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

scientific article published on 7 October 2004

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

scientific article

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

scientific article published in April 2004

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

scientific article published on 11 December 2017

Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency

scientific article published on 10 October 2018

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

scientific article

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

scientific article

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

scientific article

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

article by Capucine Picard et al published 7 April 2006 in European Journal of Pediatrics

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

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

scientific article published on 26 February 2017

Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient

scientific article published on 17 May 2017

Long-term consequences of Hodgkin lymphoma therapy on T-cell lymphopoiesis

scientific article published on 25 October 2014

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

scientific article published on 23 January 2009

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

scientific article

Loss of ARHGEF1 causes a human primary antibody deficiency

scientific article published on 04 February 2019

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

scientific article published on 14 December 2011

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

scientific article

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

scientific article

Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease

scientific article

Massive expansion of maternal T cells in response to EBV infection in a patient with SCID-Xl

article

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

scientific article published on 16 June 2017

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

scientific article published on 12 June 2006

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

scientific article published on 07 July 2015

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype ⬇️

scientific article published on June 12, 2011

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

scientific article published on 12 December 2011

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

scientific article

Mutation dans le gèneSTAT3chez des patients avec un syndrome Hyper-IgE

article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article published on 28 July 2015

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

scientific article published on July 2008

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

scientific article published on 20 April 2017

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

scientific article

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

scientific article published on 15 April 2005

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

scientific article

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

scientific article published on 26 May 2011

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

scientific article published in August 2006

Novel primary immunodeficiencies

scientific article published on 01 January 2005

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

scientific article published on February 2008

OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.

scientific article published on 12 November 2016

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

scientific article

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

scientific article published on 24 January 2011

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

scientific article

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

scientific article published on 31 March 2011

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

scientific article

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome

scientific article published on April 2015

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity.

scientific article published on 17 September 2014

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

scientific article published on 2 April 2015

Pachymeningitis after meningococcal infection

scientific article published on May 2013

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

scientific article published on 22 February 2012

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

scientific article

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

scientific article published on 9 January 2018

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

scientific article published on 27 August 2007

Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency

scientific article published on 12 October 2012

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

scientific article

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

scientific article

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study

scientific article

Pneumococcal Meningitis Vaccine Breakthroughs and Failures After Routine 7-Valent and 13-Valent Pneumococcal Conjugate Vaccination in Children in France

scientific article published on 15 July 2015

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

scientific article

Prevention of infections during primary immunodeficiency

scientific 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 T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

scientific article

Primary immunodeficiencies associated with pneumococcal disease

scientific article published on December 2003

Primary immunodeficiencies of protective immunity to primary infections

scientific article published on 16 March 2010

Primary immunodeficiencies underlying fungal infections

scientific article

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 microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

scientific article

Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease

scientific article published on 5 May 2016

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia

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

Recurrent Respiratory Infections Revealing CD8α 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

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

scientific article

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

Risk Factors in Children Older than 5 Years with Pneumococcal Meningitis: Data from a National Network

scientific article

Rituximab therapy for childhood Evans syndrome

scientific article

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

scientific article published on 21 October 2013

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

scientific article published on 4 May 2015

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

scientific article

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

scientific article published on 14 July 2015

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

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

scientific article

Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy

scientific article published on 12 December 2013

Severe cutaneous bacillus Calmette-Guérin infection in immunocompromised children: the relevance of skin biopsy

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

Somatic diversification in the absence of antigen-driven responses is the hallmark of the IgM+ IgD+ CD27+ B cell repertoire in infants

scientific article published on 2 June 2008

Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation

scientific article

Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies

scientific article published on 25 March 2017

Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency

article by Sophie Dupuis-Girod et al published 12 June 2006 in Pediatrics

Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

article

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency

scientific article published on 01 February 2019

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

scientific article

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

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

scientific article

Temporal interferon-gamma release response to Mycobacterium kansasii infection in an anorexia nervosa patient

scientific article published on 02 August 2012

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 transcription factor RFX protects MHC class II genes against epigenetic silencing by DNA methylation.

scientific article

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

scientific article

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

scientific article published on 6 June 2013

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency

scientific article published on 29 January 2002

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

scientific article

Trends of pneumococcal meningitis in children after introduction of the 13-valent pneumococcal conjugate vaccine in France

scientific article published on December 2014

Type І Hyper IgM Syndrome with Novel Mutation from India

scientific article published in 2013

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

Value of allohaemagglutinins in the diagnosis of a polysaccharide antibody deficiency

scientific article published in May 2015

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

scientific article

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

scientific article

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human

retracted paper

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

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

scientific article

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

scientific journal article

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

scientific article

ZAP70: a master regulator of adaptive immunity

scientific article

[How to diagnose a hereditary immunodeficiency?]

scientific article published on 01 October 2007

[Immunity and defenses against infection]

scientific article published on 01 October 2007

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