Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance

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 sus...

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Publicado en:J Clin Immunol
Autores principales: 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., Dalgard, Clifton L., Kastner, Daniel L., Aksentijevich, Ivona
Formato: Artigo
Lenguaje:Inglês
Publicado: 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7416912/
https://ncbi.nlm.nih.gov/pubmed/32638197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-020-00817-3
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