Article
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
The New England journal of medicine - 17 Mar 2016
Kuehn H S, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand E W, Maffucci P, Pierce K R, Abbott J K, Voelkerding K V, South S T, Augustine N H, Bush J S, Dolen W K, Wray B B, Itan Y, Cobat A, Sorte H S, Ganesan S, Prader S, Martins T B, Lawrence M G, Orange J S, Calvo K R, Niemela J E, Casanova J-L, Fleisher T A, Hill H R, Kumánovics A, Conley M E, Rosenzweig S D
Abstract excerpt
BACKGROUND: Common variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinemia in the absence of predisposing factors. The genetic cause is unknown in the majority of cases, and less than 10% of patients have a family history of the disease. Most patients have normal numbers of B cells but lack plasma cells. METHODS: We used whole-exome sequencing and array-based comparative genomic...
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