Home / News / Publication du travail sur les aspects génétiques dans le syndrome d'Evans

15-04-2019 / Publication du travail sur les aspects génétiques dans le syndrome d'Evans

Nous somme heureux d'annoncer la publication dans la revue Blood du travail de Jérôme Hadjadj et Nathalie Aladjidi sur les aspects génétiques dans le syndrome d'Evans.
 

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood. 2019 Apr 2. pii: blood-2018-11-887141. doi: 10.1182/blood-2018-11-887141.(Pubmed, site de l'éditeur)

Abstract:
Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most cases, the underlying cause is unknown. We sought to identify genetic defects in pediatric ES (pES), based on a hypothesis of strong genetic determinism. In a national, prospective cohort of 203 patients with early-onset ES (median (range) age at last follow-up: 16.3 years (1.2-41.0)) initiated in 2004, 80 non-selected consecutive individuals underwent genetic testing. The clinical data were analyzed as a function of the genetic findings. Fifty-two patients (65%) received a genetic diagnosis (the M+ group): 49 carried germline mutations, and 3 carried somatic variants. Thirty-two (40%) had pathogenic mutations in one of 9 genes known to be involved in primary immunodeficiencies (TNFRSF6, CTLA4, STAT3, PIK3CD, CBL, ADAR1, LRBA, RAG1, and KRAS), whereas 20 patients (25%) carried probable pathogenic variants in 16 genes that had not previously been reported in the context of autoimmune disease. Lastly, no genetic abnormalities were found in the remaining 28 patients (35%, the M- group). The M+ group displayed more severe disease than the M- group, with a greater frequency of additional immunopathologic manifestations and a greater median number of lines of treatment. Six patients (all from the M+ group) died during the study. In conclusion, pES was potentially genetically determined in at least 65% of cases. Systematic, wide-ranging genetic screening should be offered in pES; the genetic findings have prognostic significance and may guide the choice of a targeted treatment.

News


Publication de notre travail sur l'incidence de l'AHAI pédiatrique en Aquitaine

+

Publication du travail sur les aspects neurologiques dans le syndrome d'Evans

+

Publication du travail sur les aspects génétiques dans le syndrome d'Evans

+
See all news

Schedule

15-05-2020
Journée annuelle du centre de Référence des Cytopénies Autoimmunes de l’Adulte
+

18-09-2020
 Réunion Annuelle CEREVANCE

See the entire schedule