Evans Syndrome Clinical Trial
Official title:
Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome
Characterization of the genetic causes, and of the immunopathological clinical and biological manifestations in children with pediatric Evans syndrome included in a prospective national observational cohort of rare diseases.
Pediatric Evans syndrome (pES) is a rare and severe disease combining immunologic
thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA). French patients from
the 30 hematologic pediatric centers are from 2004 included in a prospective national
OBS'CEREVANCE cohort.
A first pilot study revealed a monogenic cause in 7/18 patients (40%) with mutations in the
CTLA-4, LRBA, STAT3 GOF, and KRAS. TNGS or exome studies were performed between 2015 and 2018
inn 80 patients with pSE from the OBS'CEREVANCE cohort. This approach, combined with by
immunophenotyping lymphocyte, identified a genetic cause of the disease in 26 patients (32%)
(TNFRSF6, CTLA4, LRBA, STAT3 GOF, PIK3CD, RAG1, KRAS) and potential causal mutations in 18
other patients (22%), bringing the proportion of potential single gene cause to 76%.
The central hypothesis of this study is that most, if not all, cases of pSE are related to a
monogenic or digenic cause, possibly with the intervention of genetic modifiers such as
somatic mutations.
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| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
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OBS'CEREVANCE: French Cohort of Pediatric Autoimmune Cytopenia
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| Completed |
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