Article
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
The Journal of allergy and clinical immunology - 1 Sept 2023
Chen Liang, Mamutova Anna, Kozlova Anna, Latysheva Elena, Evgeny Frolov, Latysheva Tatiana, Savostyanov Kirill, Pushkov Alexander, Zhanin Ilya, Raykina Elena, Kurnikova Maria, Mersiyanova Irina, Platt Craig D, Jee Hyuk, Brodeur Kailey, Du Yan, Liu Meng, Weiss Aaron, Schulert Grant S, Rodriguez-Smith Jackeline, Hershfield Michael S, Aksentijevich Ivona, Zhou Qing, Nigrovic Peter A, Shcherbina Anna, Alexeeva Ekaterina, Lee Pui Y
Abstract excerpt
BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) results in heterogeneous manifestations including systemic vasculitis and red cell aplasia. The basis of different disease phenotypes remains incompletely defined. OBJECTIVE: We sought to further delineate disease phenotypes in DADA2 and define the mechanistic basis of ADA2 variants. METHODS: We analyzed the clinical features and ADA2 variants in 33 patients...
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