Vasculitis due to ADA2 deficiency

Engelsk navn: Vasculitis due to ADA2 deficiency
Engelske synonym: Vasculitis due to DADA2


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

Fra Orphanet

ORPHA: 404553
Klassifiseringsnivå: Disorder
ICD-10: M30.8

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