Adenosine deaminase 2 deficiency: a disease with multiple presentations].

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.

Citation

Leo Caratsch, Caroline Schnider, Laura Moi, Katerina Theodoropoulou, Fabio Candotti, Michaël Hofer. Adenosine deaminase 2 deficiency: a disease with multiple presentations]. Revue medicale suisse. 2022 Apr 06;18(776):669-673

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PMID: 35385618

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