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Adenosine deaminase 2 deficiency (DADA2) is a genetic auto- inflammatory disease that most often presents in childhood, but that can also have a late onset in adulthood. It is characterized by vasculitis, mainly of the skin and nervous system most often in the form of a stroke, associated to immunodeficiency and cytopenias. The diagnosis is made by measuring adenosine deaminase 2 (ADA2) enzymatic activity and confirming the presence of mutations in the ADA2 gene by genetic testing. The treatment of choice for the inflammatory phenotype is the early administration of anti-TNFa to avoid the risk of major neurological disabilities. In the case of severe hematological involvement, hematopoietic stem cell transplantation is the only curative treatment currently available., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

1:CAS:528:DC%2BC1cXos1Sgt70%3D. 10.1038/s41431-018-0130-6 3 Schena F. Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients. Intrinsic defects in B cell development and differentiation, T cell exhaustion and altered unconventional T cell generation characterize human adenosine deaminase type 2 deficiency. Recent studies on DADA2 patients showed significantly decreased class-switched memory B cells and expansion of CD21 SP low sp B cells [[3]]. [Extracted from the article]