Article
[Adenosine deaminase 2 deficiency: a disease with multiple presentations].
Revue medicale suisse - 6 Apr 2022
Caratsch Leo, Schnider Caroline, Moi Laura, Theodoropoulou Katerina, Candotti Fabio, Hofer Michaël
Abstract excerpt
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...
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