Orphanet: Vascularite par déficit en ADA2
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Vasculitis due to ADA2 deficiency

Disease definition

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.

ORPHA:404553

Classification level: Disorder
  • Synonym(s):
    • Vasculitis due to DADA2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: M30.8
  • OMIM: 615688
  • UMLS: -
  • MeSH: -
  • GARD: 12383
  • MedDRA: -

Detailed information

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