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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: DisorderDetailed information
Professionals
- Emergency guidelines
- Français (2021, pdf)
- Clinical genetics review
- English (2019)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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