OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)
2013
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis of middle-sized arteries, found in both adults and children. Disease pathogenesis is poorly understood. We identified multiple cases of systemic PAN and cutaneous PAN in families and individuals of Georgian-Jewish ancestry, consistent with autosomal recessive inheritance. While most cases (17/20) had childhood onset, cutaneous PAN could also initiate in middle age.
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