Article
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).
The Journal of allergy and clinical immunology - 1 Jun 2020
Lee Pui Y, Kellner Erinn S, Huang Yuelong, Furutani Elissa, Huang Zhengping, Bainter Wayne, Alosaimi Mohammed F, Stafstrom Kelsey, Platt Craig D, Stauber Tali, Raz Somech, Tirosh Irit, Weiss Aaron, Jordan Michael B, Krupski Christa, Eleftheriou Despina, Brogan Paul, Sobh Ali, Baz Zeina, Lefranc Gerard, Irani Carla, Kilic Sara S, El-Owaidy Rasha, Lokeshwar M R, Pimpale Pallavi, Khubchandani Raju, Chambers Eugene P, Chou Janet, Geha Raif S, Nigrovic Peter A, Zhou Qing
Abstract excerpt
BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of the relationship between adenosine deaminase 2 (ADA2) mutations and clinical phenotype remains unavailable. OBJECTIVE: We sought to test whether the impact of ADA2 mutations on enzyme function correlates with clinical presentation....
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