CE17 - Recherche translationnelle en santé

Autoimmune CyTopenIa: genetics and pathophysiological mechaNism in pediatric Evans Syndrome – ACTION

Submission summary

Autoimmune diseases are considered to be multifactorial diseases with complex genetic backgrounds. Nevertheless, we have discovered monogenic cause of early-onset autoimmunity. The present project focuses on the genetic and pathophysiological studies of the pediatric Evans Syndrome (pES), a rare autoimmune disease targeting the red blood cells, platelets and neutrophils. Our central hypothesis infers that most, if not all, cases of pES are related to a monogenic or digenic cause, possibly with the intervention of genetic modifiers such as somatic mutations. This hypothesis is supported by previous as well as preliminary clinical and genetic findings. We will study a cohort of 200 pES patients by combining the power of next generation sequencing, used as a pipeline to identify the genetic causes, and state-of the-art single cell transcriptomic analyses with in-depth immuno-phenotype, cellular and molecular biology techniques and functional assays to characterize new genetic causes of pES and to validate specific therapeutic targets. This project will greatly contribute to extend the basic knowledge in control of the adaptive immune response in humans, and particularly in the control of self-tolerance. But it will also contribute to improve the diagnosis and care of a pediatric autoimmune disease, the Evans syndrome, for which the actual therapeutics remain poorly specific, with a mortality and a chronicity which are major challenges in public health.

Project coordination


The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.


CEDI Hôpital Necker Enfants Malades – Centre d’Etude des Déficits Immunitaires
CHU Bordeaux CHU de Bordeaux

Help of the ANR 375,387 euros
Beginning and duration of the scientific project: October 2018 - 36 Months

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