Capucine PICARD | Institut Imagine

Presentation

Capucine PICARD

Lymphocyte activation and susceptibility to Epstein-Barr virus

Contact :

capucine.picard@institutimagine.org

About

Scientific Publications

Publications

2026

deep intronic variant underlying IPEX., J Hum Immun
2026

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortal..., Br J Haematol
2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV
2026

Ribosomal RNA processing impairments in a B cell immunodeficient patient with..., Rockefeller University Press
2026

Exome sequencing enables molecular diagnosis in 10% of early-onset or familia..., EBioMedicine
2026

An unusual case of RIPK1-related immunodeficiency: The importance of a timely..., Pediatr Allergy Immunol
2025

Novel de novo dominant PSMB10 varian..., Rockefeller University Press
2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun
2025

Systematic screening for primary immunodeficiencies in patients hospitalized ..., Sci Rep
2025

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and i..., J Exp Med
2024

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency., J Clin Immunol
2024

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I..., J Exp Med
2024

Compound heterozygous mutations in the kinase domain of IKKα lead to immunode..., medRxiv
2024

Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency., Nature
2023

Combined germline and somatic human FADD mutations cause autoimmune lymphopro..., J Allergy Clin Immunol
2023

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol
2023

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood
2023

Severe hematopoietic stem cell inflammation compromises chronic granulomatous..., Cell Rep Med
2023

A multimorphic mutation in IRF4 causes human autosomal dominant combined immu..., Sci Immunol
2022

Human kidney-derived hematopoietic stem cells can support long-term multiline..., Kidney Int
2022

Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy., Clin Gastroenterol Hepatol
2022

Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EB..., J Exp Med
2022

Gain-of-function variants in humans cause immune dysregulation associated wi..., Sci Immunol
2022

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Def..., J Clin Immunol
2021

Alternative pathways for the development of lymphoid structures in humans., Proc Natl Acad Sci U S A
2021

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia an..., Haematologica
2020

Early-onset autoimmunity associated with SOCS1 haploinsufficiency., Nat Commun
2020

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and a..., J Allergy Clin Immunol
2020

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
2020

Impaired lymphocyte function and differentiation in CTPS1-deficient patients ..., JCI Insight
2020

Topoisomerase 2β mutation impairs early B-cell development., Blood
2019

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a N..., Front Immunol
2019

Concomitant and deficiencies cause chronic active Epstein-Barr virus infect..., J Exp Med
2019

A deep intronic splice mutation of underlies hyper IgE syndrome by negative ..., Proc Natl Acad Sci U S A
2019

Pediatric Evans syndrome is associated with a high frequency of potentially d..., Blood
2019

Loss of ARHGEF1 causes a human primary antibody deficiency., J Clin Invest
2018

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associ..., Gastroenterology
2018

Disruption of an antimycobacterial circuit between dendritic and helper T cel..., Nat Immunol
2018

Incomplete penetrance for isolated congenital asplenia in humans with mutatio..., Proc Natl Acad Sci U S A
2018

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici..., J Clin Immunol
2018

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT..., Sci Immunol
2018

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c..., J Allergy Clin Immunol
2018

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined imm..., J Clin Invest
2018

Next generation phenotyping using narrative reports in a rare disease clinica..., Orphanet J Rare Dis
2018

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato..., J Crohns Colitis
2018

Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulat..., Front Immunol
2018

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol
2018

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency..., Clin Immunol
2017

Type I interferon-mediated autoinflammation due to DNase II deficiency., Nat Commun
2017

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explan..., Hum Mutat
2017

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocy..., J Exp Med
2017

Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica
2016

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27..., J Exp Med
2016

Evolution of disease activity and biomarkers on and off rapamycin in 28 patie..., Haematologica
2016

Exome and genome sequencing for inborn errors of immunity., J Allergy Clin Immunol
2016

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr..., J Allergy Clin Immunol
2016

X-linked primary immunodeficiency associated with hemizygous mutations in the..., J Allergy Clin Immunol
2016

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol
2015

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ..., J Allergy Clin Immunol
2015

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in hu..., Science
2015

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndr..., JAMA
2015

A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest
2014

Inherited STING-activating mutation underlies a familial inflammatory syndrom..., J Clin Invest
2014

Defective anti-polysaccharide response and splenic marginal zone disorganizat..., Blood
2012

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency..., Haematologica
2012

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligan..., J Allergy Clin Immunol
2011

A survey of 90 patients with autoimmune lymphoproliferative syndrome related ..., Blood
2010

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a conseq..., J Clin Invest
2010

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 a..., Immunity
2010

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of..., Gastroenterology
2009

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are relia..., Blood
2007

TLR3 deficiency in patients with herpes simplex encephalitis., Science
2006

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease., PLoS Genet
2003

Pyogenic bacterial infections in humans with IRAK-4 deficiency., Science
2001

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of..., Am J Hum Genet

Presentation

About

Scientific Publications

deep intronic variant underlying IPEX., J Hum Immun

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortal..., Br J Haematol

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV

Ribosomal RNA processing impairments in a B cell immunodeficient patient with..., Rockefeller University Press

Exome sequencing enables molecular diagnosis in 10% of early-onset or familia..., EBioMedicine

An unusual case of RIPK1-related immunodeficiency: The importance of a timely..., Pediatr Allergy Immunol

Novel de novo dominant PSMB10 varian..., Rockefeller University Press

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun

Systematic screening for primary immunodeficiencies in patients hospitalized ..., Sci Rep

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and i..., J Exp Med

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency., J Clin Immunol

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I..., J Exp Med

Compound heterozygous mutations in the kinase domain of IKKα lead to immunode..., medRxiv

Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency., Nature

Combined germline and somatic human FADD mutations cause autoimmune lymphopro..., J Allergy Clin Immunol

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood

Severe hematopoietic stem cell inflammation compromises chronic granulomatous..., Cell Rep Med

A multimorphic mutation in IRF4 causes human autosomal dominant combined immu..., Sci Immunol

Human kidney-derived hematopoietic stem cells can support long-term multiline..., Kidney Int

Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy., Clin Gastroenterol Hepatol

Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EB..., J Exp Med

Gain-of-function variants in humans cause immune dysregulation associated wi..., Sci Immunol

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Def..., J Clin Immunol

Alternative pathways for the development of lymphoid structures in humans., Proc Natl Acad Sci U S A

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia an..., Haematologica

Early-onset autoimmunity associated with SOCS1 haploinsufficiency., Nat Commun

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and a..., J Allergy Clin Immunol

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol

Impaired lymphocyte function and differentiation in CTPS1-deficient patients ..., JCI Insight

Topoisomerase 2β mutation impairs early B-cell development., Blood

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a N..., Front Immunol

Concomitant and deficiencies cause chronic active Epstein-Barr virus infect..., J Exp Med

A deep intronic splice mutation of underlies hyper IgE syndrome by negative ..., Proc Natl Acad Sci U S A

Pediatric Evans syndrome is associated with a high frequency of potentially d..., Blood

Loss of ARHGEF1 causes a human primary antibody deficiency., J Clin Invest

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associ..., Gastroenterology

Disruption of an antimycobacterial circuit between dendritic and helper T cel..., Nat Immunol

Incomplete penetrance for isolated congenital asplenia in humans with mutatio..., Proc Natl Acad Sci U S A

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici..., J Clin Immunol

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT..., Sci Immunol

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c..., J Allergy Clin Immunol

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined imm..., J Clin Invest

Next generation phenotyping using narrative reports in a rare disease clinica..., Orphanet J Rare Dis

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato..., J Crohns Colitis

Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulat..., Front Immunol

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency..., Clin Immunol

Type I interferon-mediated autoinflammation due to DNase II deficiency., Nat Commun

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explan..., Hum Mutat

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocy..., J Exp Med

Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27..., J Exp Med

Evolution of disease activity and biomarkers on and off rapamycin in 28 patie..., Haematologica

Exome and genome sequencing for inborn errors of immunity., J Allergy Clin Immunol

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr..., J Allergy Clin Immunol

X-linked primary immunodeficiency associated with hemizygous mutations in the..., J Allergy Clin Immunol

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ..., J Allergy Clin Immunol

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in hu..., Science

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndr..., JAMA

A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest

Inherited STING-activating mutation underlies a familial inflammatory syndrom..., J Clin Invest

Defective anti-polysaccharide response and splenic marginal zone disorganizat..., Blood

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency..., Haematologica

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligan..., J Allergy Clin Immunol

A survey of 90 patients with autoimmune lymphoproliferative syndrome related ..., Blood

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a conseq..., J Clin Invest

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 a..., Immunity

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of..., Gastroenterology

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are relia..., Blood

TLR3 deficiency in patients with herpes simplex encephalitis., Science

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease., PLoS Genet

Pyogenic bacterial infections in humans with IRAK-4 deficiency., Science

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of..., Am J Hum Genet