Publish at 18.11.2019
Presentation
Immunogenetics of pediatric autoimmune diseases
This project focuses on the mechanisms involved in the control of self-tolerance in primary human immunodeficiencies and in hyper immune syndromes. The autoimmune lymphoproliferative syndrome (ALPS) is associated with mutations of the Fas gene and apoptosis deficiencies. It is characterized by a benign tumoral syndrome along with autoimmune cytopenias.This condition thus represents a key model to study some aspects predisposing to autoimmune diseases in the context of apoptosis deficiency. Moreover, the genetic and clinical variability of the ALPS suggests that additional factors are involved in the onset of the disease.
The main goal of this work is to identify the modifiers involved in ALPS with Fas deficiency and to evaluate their possible contribution in similar or related conditions with yet undefined mechanisms. In addition of extrinsic and intrinsic apoptosis pathways study we analyze the development and the function of regulatory T cells in the context of ALPS. Such study is also performed in autoimmune disorders associated with deficiency of the regulatory T cells like in Immunodysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) and in IPEX-like patients with autosomal inheritence, as well as in severe combined immunodeficiencies. This project is based on the availability of the patients’ blood samples, as well as on the development of animal or cellular models. This work should provide a better understanding of the molecular and cellular bases of the mechanisms involved in T cells homeostasis and self-tolerance, and should allow the identification of susceptibility factors to human auto-immune diseases.
Team
-
Frédéric Rieux-Laucat
Team Leader
-
Sorina Boiu
Post-doctoral researcher
-
Charlotte Boussard
PhD candidate
-
Camille BRUNAUD
Engineer
-
Elisa Chapuis
M2 student
-
Etienne Crickx
Post-doctoral researcher
-
Laure DELAGE
Post-doctoral researcher
-
Marie Jeanpierre
PhD candidate
-
Aude Magerus
Researcher
-
Manon Marchais
Engineer
-
Fabienne Mazerolles
Researcher
-
Solange Moreno
PhD candidate
-
Nour Moussaoui
M2 student
-
Bénédicte Neven
PU-PH
-
Olivier Pellé
Engineer
-
Pierre Quartier
PU-PH
-
Quentin Riller
PhD candidate
-
Boris Sorin
PhD candidate
-
Marie-Claude Stolzenberg
Research engineer
-
Fabian Zanchetta
M2 student
Resources & publications
-
Immunol. Rev. 2019
FAS and RAS related Apoptosis defects: From autoimmunity to leukemia.
-
J. Clin. Invest. 2015
Inherited STING-activating mutation underlies a familial inflammatory syndrom...
-
J. Clin. Invest. 2011
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a conseq...
-
N. Engl. J. Med. 2004
Autoimmune lymphoproliferative syndrome with somatic Fas mutations.
To read also
-
Research Acceleration
Discovery of DOCK11 mutations responsible for a new X-linked autoimmune disease
07/04/2023
-
-
-
-
Research Acceleration
16/07/2020
-
Research Acceleration
COVID-19: To uncover a signature of patients at risk of developing a severe form of the disease
17/04/2020