Marie-Claude STOLZENBERG | Institut Imagine

Présentation

Marie-Claude STOLZENBERG

Immunogénétique des maladies auto-immunes pédiatriques

Contact :

01 42 75 44 35

marie-claude.stolzenberg@inserm.fr

À propos

Publications scientifiques

Publications

2026

deep intronic variant underlying IPEX., J Hum Immun
2026

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

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

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutat..., Gastro Hep Adv
2025

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

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from E..., J Exp Med
2024

Compound heterozygous mutations in the kinase domain of IKKα lead to immunode..., medRxiv
2023

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

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

Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy., Clin Gastroenterol Hepatol
2021

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst..., Med
2020

Early-onset autoimmunity associated with SOCS1 haploinsufficiency., Nat Commun
2019

Comment on: Monogenic mimics of Behçet's disease in the young., Rheumatology (Oxford)
2019

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

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

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

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
2004

Autoimmune lymphoproliferative syndrome with somatic Fas mutations., N Engl J Med

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Présentation

À propos

Publications scientifiques

deep intronic variant underlying IPEX., J Hum Immun

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

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

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutat..., Gastro Hep Adv

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

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

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from E..., J Exp Med

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

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

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

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

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst..., Med

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

Comment on: Monogenic mimics of Behçet's disease in the young., Rheumatology (Oxford)

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

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

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

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

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

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

Autoimmune lymphoproliferative syndrome with somatic Fas mutations., N Engl J Med