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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Bibliografiska uppgifter
I publikationen:J Clin Immunol
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2020
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Article
Länkar: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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