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.


Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.

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

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