Vasculitis due to ADA2 deficiency

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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Vasculitis due to ADA2 deficiency?

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

Clinical Trials

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