Stéphanie BOISSON-DUPUIS | Institut Imagine

Présentation

HDR

Stéphanie BOISSON-DUPUIS

Génétique humaine des maladies infectieuses

Contact :

01 42 75 43 29

stephanie.dupuis@inserm.fr

À propos

Publications scientifiques

Publications

2026

Humans homozygous for rare or common hypomorphic IL23R variants are prone to ..., J Exp Med
2026

Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol
2025

A human YEATS4 variant confers resistance to TST and IGRA conversion despite ..., Genome Med
2025

Human LY9 governs CD4 T cell IFN-γ immunity to ., Sci Immunol
2024

Tuberculosis in otherwise healthy adults with inherited TNF deficiency., Nature
2024

FLT3L governs the development of partially overlapping hematopoietic lineages..., Cell
2024

Helper T cell immunity in humans with inherited CD4 deficiency., J Exp Med
2024

Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 o..., J Clin Invest
2024

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency., J Clin Immunol
2023

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to ..., Cell
2023

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022., J Clin Immunol
2023

Rare predicted loss-of-function variants of type I IFN immunity genes are ass..., Genome Med
2023

Inborn errors of human transcription factors governing IFN-γ antimycobacteria..., Curr Opin Immunol
2023

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria., Cell
2022

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculo..., J Exp Med
2022

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneu..., J Exp Med
2021

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life..., Sci Immunol
2021

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child., Nat Med
2021

Genome-wide association study of resistance to Mycobacterium tuberculosis inf..., PLoS Genet
2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19., Science
2020

Autoantibodies against type I IFNs in patients with life-threatening COVID-19., Science
2020

Inherited human IFN-γ deficiency underlies mycobacterial disease., J Clin Invest
2020

The monogenic basis of human tuberculosis., Hum Genet
2019

Prevalence and risk factors for latent tuberculosis infection among healthcar..., PLoS One
2019

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

Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a ..., Proc Natl Acad Sci U S A
2018

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23., Sci Immunol
2018

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous..., Sci Immunol
2018

Mendelian susceptibility to mycobacterial disease: 2014-2018 update., Immunol Cell Biol
2018

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ..., Hum Mol Genet
2018

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficie..., J Exp Med
2018

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

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

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacte..., J Clin Immunol
2018

IRF4 haploinsufficiency in a family with Whipple's disease., Elife
2017

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac..., Sci Rep
2015

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered..., J Infect Dis
2015

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in hu..., Science
2006

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease., PLoS Genet
2005

Gains of glycosylation comprise an unexpectedly large group of pathogenic mut..., Nat Genet

Présentation

À propos

Publications scientifiques

Humans homozygous for rare or common hypomorphic IL23R variants are prone to ..., J Exp Med

Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol

A human YEATS4 variant confers resistance to TST and IGRA conversion despite ..., Genome Med

Human LY9 governs CD4 T cell IFN-γ immunity to ., Sci Immunol

Tuberculosis in otherwise healthy adults with inherited TNF deficiency., Nature

FLT3L governs the development of partially overlapping hematopoietic lineages..., Cell

Helper T cell immunity in humans with inherited CD4 deficiency., J Exp Med

Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 o..., J Clin Invest

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency., J Clin Immunol

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to ..., Cell

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022., J Clin Immunol

Rare predicted loss-of-function variants of type I IFN immunity genes are ass..., Genome Med

Inborn errors of human transcription factors governing IFN-γ antimycobacteria..., Curr Opin Immunol

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria., Cell

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculo..., J Exp Med

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneu..., J Exp Med

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life..., Sci Immunol

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child., Nat Med

Genome-wide association study of resistance to Mycobacterium tuberculosis inf..., PLoS Genet

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

Autoantibodies against type I IFNs in patients with life-threatening COVID-19., Science

Inherited human IFN-γ deficiency underlies mycobacterial disease., J Clin Invest

The monogenic basis of human tuberculosis., Hum Genet

Prevalence and risk factors for latent tuberculosis infection among healthcar..., PLoS One

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

Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a ..., Proc Natl Acad Sci U S A

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23., Sci Immunol

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous..., Sci Immunol

Mendelian susceptibility to mycobacterial disease: 2014-2018 update., Immunol Cell Biol

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ..., Hum Mol Genet

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficie..., J Exp Med

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

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

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacte..., J Clin Immunol

IRF4 haploinsufficiency in a family with Whipple's disease., Elife

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac..., Sci Rep

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered..., J Infect Dis

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

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

Gains of glycosylation comprise an unexpectedly large group of pathogenic mut..., Nat Genet

Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB115:02 o..., J Clin Invest*