Déficit en adénosine désaminase 2 : une maladie aux présentations multiples [Adenosine deaminase 2 deficiency: a disease with multiple presentations]
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6 avril 2022
- doi: 10.53738/REVMED.2022.18.776.669
- issn: 1660-9379
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D3726C7A78189
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L. Caratsch et al., « Déficit en adénosine désaminase 2 : une maladie aux présentations multiples [Adenosine deaminase 2 deficiency: a disease with multiple presentations] », Serveur académique Lausannois, ID : 10.53738/REVMED.2022.18.776.669
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Résumé
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.