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List of works by Anne Puel

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

scientific article published on 09 June 2017

A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis

scientific article published on 5 June 2015

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

scientific article

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

scientific article published on 25 May 2013

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

scientific article published on 01 June 2018

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

scientific article published on 10 April 2020

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

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

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

scientific article published on 10 October 2013

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

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

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

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-dominant primary immunodeficiencies

scientific article

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

scientific article published on 04 June 2007

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

scientific article

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

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

Cloning of a receptor subunit required for signaling by thymic stromal lymphopoietin

article by Akhilesh Pandey et al published July 2000 in Nature Immunology

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

scientific article published on 2 March 2018

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

scientific article

Deep dermatophytosis and inherited CARD9 deficiency

scientific article

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency

scientific 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

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

scientific article published on 22 May 2021

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

Dominant negative CARD11 mutations: Beyond atopy

scientific article published on 17 January 2019

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

scientific article published on 01 June 2020

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

scientific article published on 19 September 2016

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

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

scientific article published on 28 January 2020

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

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

scientific article published on December 1, 2012

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

scientific article published in December 2006

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

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

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 susceptibility to invasive fungal infections

scientific article published on December 2015

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

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

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

scientific article published on 5 July 2017

Heritable defects of the human TLR signalling pathways

scientific article

Herpes in STAT1 gain-of-function mutation [corrected].

scientific article published in June 2012

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

scientific article published on 21 November 2011

Herpes simplex virus encephalitis in human UNC-93B deficiency

scientific article

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

scientific article

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

scientific article published on February 2017

Human BCL10 Deficiency due to Homozygosity for a Rare Allele

scientific article published on 01 February 2020

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

scientific article published on 9 September 2010

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

scientific article published on 01 December 2018

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

scientific article published on 27 August 2020

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

scientific article published on 03 December 2020

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 genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Human gut mycobiota tune immunity via CARD9-dependent induction of anti-fungal IgG antibodies

scientific article published on 05 February 2021

Human hyper-IgE syndrome: singular or plural?

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

scientific article published on 20 May 2019

Human primary immunodeficiencies of type I interferons

scientific article published on 8 May 2007

Human inborn errors of immunity underlying superficial or invasive candidiasis

scientific article published on 02 March 2020

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

scientific article published on 11 November 2013

IL-17 and infections

scientific article

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

scientific article

INTERLEUKIN-7 RECEPTOR α CHAIN–DEPENDENT SIGNALING IS REQUIRED FOR T-CELL DEVELOPMENT

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)

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

scientific article published on September 2012

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

scientific article

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

scientific article published on December 2012

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

scientific article

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals

scientific article

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

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

scientific article published on 24 September 2020

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

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

scientific article

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

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 IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

scientific article published on 27 April 2015

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

scientific article published on February 2004

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

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-36-receptor antagonist deficiency and generalized pustular psoriasis

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

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

scientific article published on 01 August 2018

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

scientific article published in Journal of Biological Chemistry

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

scientific article published on 03 October 2012

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

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

scientific article published on July 2008

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

scientific article

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

scientific article

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

scientific article published on 01 January 2021

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

scientific article published on 24 May 2013

New clinical phenotypes of fungal infections in special hosts

scientific article published on 26 May 2016

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 gain-of-function mutation and suppurative infections.

scientific article

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

scientific article published on February 2008

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

scientific article

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

scientific article published on 4 November 2014

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

scientific article published on February 2015

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

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

scientific article published on January 2008

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

scientific article

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

scientific article published on 18 December 2018

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

Role of immune responsiveness and DNA repair capacity genes in ageing

scientific article published on April 2004

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

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

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

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

scientific article published on 16 December 2013

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

scientific article published in Scientific Reports

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

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 Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency

scientific article published on 20 June 2019

Susceptibility and Resistance to Leishmania amazonensis in H‐2q Syngeneic High and Low Antibody Responder Mice (Biozzi Mice) ⬇️

scientific article published on 01 August 1998

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

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

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

scientific article

The Role of Human IL-17 Immunity in Fungal Disease

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

scientific article

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

scientific article

The nature of human IL-6

scientific article published on 24 June 2019

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 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

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

scientific article published on 01 December 2018

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

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-based discovery of human FADD deficiency

scientific article

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

scientific article

ZNF341 controls STAT3 expression and thereby immunocompetence

scientific article published on 01 June 2018

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