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What is adenosine deaminase 2 deficiency (DADA2)?

Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate.

What does ADA2 stand for?

OMIM Entries for Adenosine Deaminase 2 Deficiency ( View All in OMIM) Humans express two enzymes, ADA1 (also referred to as ADA) (see Adenosine Deaminase Deficiency) and ADA2, which catalyze the deamination of adenosine and 2'-deoxyadenosine to inosine and deoxyinosine, respectively.

What causes ADA2 disease?

DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all domains of ADA2 affecting the catalytic activity, protein dimerization, and secretion.

What is ADA deficiency?

ADA deficiencyor ADA-SCID Specialty Immunology Adenosine deaminase deficiency(ADA deficiency) is a metabolic disorderthat causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–15% of all cases of autosomalrecessiveforms of severe combined immunodeficiency(SCID) among non-inbredpopulations.

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