Vasculitis due to ADA2 deficiency
Synonyms: 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Vasculitis due to ADA2 deficiency?
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FMF & AID Global Association
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Ukrainian Association of Pediatric Immunology
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