Article
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Journal of clinical immunology - 1 Aug 2020
Schnappauf Oskar, Zhou Qing, Moura Natalia Sampaio, Ombrello Amanda K, Michael Drew G, Deuitch Natalie, Barron Karyl, Stone Deborah L, Hoffmann Patrycja, Hershfield Michael, Applegate Carolyn, Bjornsson Hans T, Beck David B, Witmer P Dane, Sobreira Nara, Wohler Elizabeth, Chiorini John A, Center The American Genome, Dalgard Clifton L, Center Nih Intramural Sequencing, Kastner Daniel L, Aksentijevich Ivona
Abstract excerpt
PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that manifests with fever, early-onset vasculitis, strokes, and hematologic dysfunction. This study aimed to identify disease-causing variants by conventional Sanger and whole exome sequencing in two families suspected to have DADA2 and non-confirmatory genotypes. ADA2 enzymatic assay confirmed the clinical diagnosis of DADA2....
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