Jérémie ROSAIN | Institut Imagine

Présentation

PhD, HDR, Principal investigator

Jérémie ROSAIN

Génétique humaine des maladies infectieuses

Contact :

01 42 75 43 97

jeremie.rosain@institutimagine.org

À propos

I am an assitant professor (MCU-PH) at Université Paris Cité. I am an immunologist by training and an approuved geneticst for germline disorders. At hospital, I work part-time as a geneticist in two clinical laboratories (i) the French nationwide laboratory for immunodeficiencies, (ii) and the French genome program for undiagnosed rare diseases. I defended my Ph.D in 2022 under the supervision of Jacinta Bustamante. I since then work in the research lab of Vivien Béziat and Jean-Laurent Casanova at Imagine Institute.

Projet scientifique

I have two main research areas:

1/ Germline and somatic variants underlying isolated infectious diseases in adult patients

We hypothesize that life-threatening atypical rare infections happening in adults may be due to:
(i) genetic diseases caused by germline variants, as is notably the case for Whipple's disease (PMID: 40062480, 41424747),
(ii) Somatic variants mimicking germline genetic disorders.

We study these diseases in close collaboration with internists, hematologists, rheumatologists, and other adult-care clinicians.

2/ Structural variants and variants in non-coding regions underyling inborn errors of immunity

I work closely with bioinformaticians from Imagine, from clinical laboratories, and from the research lab to identify hard-to-detect variants in unsolved cases of patients with immunodeficiencies. Some of these clinically relevant variants have been reported in the literature (PMID: 29995221, 31377971, 39578275, 41333711, 41394892, 42529738, 42322192) while others are being submitted to ClinVar, to GeneIA, or to Infevers.

Publications scientifiques

Publications

2026

deep intronic variant underlying IPEX., J Hum Immun
2026

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

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

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with ..., medRxiv
2026

Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol
2026

Complete and partial forms of X-linked MCTS1 deficiency in patients with myco..., J Hum Immun
2026

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs..., Nat Immunol
2025

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

IRF4 haploinsufficiency in a multiplex family with Whipple's disease., J Hum Immun
2025

A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds., J Hum Immun
2025

Serological diagnosis of chronic skin granulomas caused by wild-type or vacci..., J Hum Immun
2025

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

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogen..., Am J Hematol
2025

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

Human genetics of Whipple's disease., Curr Opin Rheumatol
2025

Clinical manifestations, disease penetrance, and treatment in individuals wit..., Lancet Rheumatol
2024

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

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is ca..., J Clin Invest
2024

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

A sensitive assay for measuring whole-blood responses to type I IFNs., Proc Natl Acad Sci U S A
2024

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

Interferon Gamma in Sickness Predisposing to Infectious Diseases., Balkan Med J
2024

Individuals with JAK1 variants are affected by syndromic features encompassin..., J Exp Med
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

The immunopathological landscape of human pre-TCRα deficiency: From rare to c..., Science
2024

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency., J Clin Immunol
2024

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-..., J Exp Med
2023

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs n..., Sci Immunol
2023

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

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis..., J Exp 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

The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A
2022

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child wi..., J Clin Immunol
2021

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected indiv..., Sci Immunol
2021

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

Humans with inherited T cell CD28 deficiency are susceptible to skin papillom..., Cell
2021

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

Detection of homozygous and hemizygous complete or partial exon deletions by ..., NAR Genom Bioinform
2021

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever..., J Exp Med
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

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

Inherited human IFN-γ deficiency underlies mycobacterial disease., J Clin Invest
2019

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-..., J Clin Immunol
2019

Pediatric Evans syndrome is associated with a high frequency of potentially d..., Blood
2018

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

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

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c..., J Allergy Clin Immunol
2017

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

Présentation

À propos

Projet scientifique

Publications scientifiques

deep intronic variant underlying IPEX., J Hum Immun

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

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

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with ..., medRxiv

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

Complete and partial forms of X-linked MCTS1 deficiency in patients with myco..., J Hum Immun

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs..., Nat Immunol

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

IRF4 haploinsufficiency in a multiplex family with Whipple's disease., J Hum Immun

A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds., J Hum Immun

Serological diagnosis of chronic skin granulomas caused by wild-type or vacci..., J Hum Immun

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

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogen..., Am J Hematol

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

Human genetics of Whipple's disease., Curr Opin Rheumatol

Clinical manifestations, disease penetrance, and treatment in individuals wit..., Lancet Rheumatol

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

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is ca..., J Clin Invest

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

A sensitive assay for measuring whole-blood responses to type I IFNs., Proc Natl Acad Sci U S A

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

Interferon Gamma in Sickness Predisposing to Infectious Diseases., Balkan Med J

Individuals with JAK1 variants are affected by syndromic features encompassin..., J Exp Med

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

The immunopathological landscape of human pre-TCRα deficiency: From rare to c..., Science

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

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-..., J Exp Med

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs n..., Sci Immunol

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

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis..., J Exp Med

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

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

The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child wi..., J Clin Immunol

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected indiv..., Sci Immunol

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

Humans with inherited T cell CD28 deficiency are susceptible to skin papillom..., Cell

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

Detection of homozygous and hemizygous complete or partial exon deletions by ..., NAR Genom Bioinform

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever..., J Exp Med

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

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

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

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-..., J Clin Immunol

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

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

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

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

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

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