Bénédicte NEVEN | Institut Imagine

Presentation

Bénédicte NEVEN

Immunogenetics of pediatric autoimmune diseases

Contact :

benedicte.neven@institutimagine.org

About

Scientific Publications

Publications

2026

deep intronic variant underlying IPEX., J Hum Immun
2026

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the int..., Springer Science and Business Media LLC
2025

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

In silico modeling guides identification of novel JAK1 variants associated wi..., EMBO Mol Med
2025

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

French protocol for diagnosis and management of type 1 interferonopathies., Rev Med Interne
2025

Severe inflammation and lineage skewing are associated with poor engraftment ..., Nat Commun
2025

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

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

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

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

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

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary..., J Clin Immunol
2023

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood
2022

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

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

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

Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: t..., Nat Med
2021

JAK inhibition in the type I interferonopathies., J Allergy Clin Immunol
2021

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

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrins..., Nat Immunol
2021

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue ..., J Clin Immunol
2020

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ..., J Allergy Clin Immunol Pract
2020

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

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte..., J Exp Med
2020

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

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and..., Blood Adv
2020

Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GV..., Am J Transplant
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

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID., Front Pediatr
2019

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

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit..., Nat Genet
2018

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand ..., J Clin Immunol
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

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
2017

Detection of interferon alpha protein reveals differential levels and cellula..., J Exp Med
2016

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

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of va..., J Allergy Clin Immunol
2016

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol
2016

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis., Clin Immunol
2014

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

Defective anti-polysaccharide response and splenic marginal zone disorganizat..., Blood
2014

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo..., 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

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

Presentation

About

Scientific Publications

deep intronic variant underlying IPEX., J Hum Immun

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the int..., Springer Science and Business Media LLC

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

In silico modeling guides identification of novel JAK1 variants associated wi..., EMBO Mol Med

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

French protocol for diagnosis and management of type 1 interferonopathies., Rev Med Interne

Severe inflammation and lineage skewing are associated with poor engraftment ..., Nat Commun

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

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

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

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

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

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

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

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary..., J Clin Immunol

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

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

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

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

Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: t..., Nat Med

JAK inhibition in the type I interferonopathies., J Allergy Clin Immunol

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

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrins..., Nat Immunol

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue ..., J Clin Immunol

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ..., J Allergy Clin Immunol Pract

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

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte..., J Exp Med

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

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and..., Blood Adv

Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GV..., Am J Transplant

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

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID., Front Pediatr

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

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit..., Nat Genet

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand ..., J Clin Immunol

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

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

Detection of interferon alpha protein reveals differential levels and cellula..., J Exp Med

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

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of va..., J Allergy Clin Immunol

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

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis., Clin Immunol

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

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

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo..., 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

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