Article
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
Nature communications - 20 Apr 2015
Li Jin, Jørgensen Silje F, Maggadottir S Melkorka, Bakay Marina, Warnatz Klaus, Glessner Joseph, Pandey Rahul, Salzer Ulrich, Schmidt Reinhold E, Perez Elena, Resnick Elena, Goldacker Sigune, Buchta Mary, Witte Torsten, Padyukov Leonid, Videm Vibeke, Folseraas Trine, Atschekzei Faranaz, Elder James T, Nair Rajan P, Winkelmann Juliane, Gieger Christian, Nöthen Markus M, Büning Carsten, Brand Stephan, Sullivan Kathleen E, Orange Jordan S, Fevang Børre, Schreiber Stefan, Lieb Wolfgang, Aukrust Pål, Chapel Helen, Cunningham-Rundles Charlotte, Franke Andre, Karlsen Tom H, Grimbacher Bodo, Hakonarson Hakon, Hammarström Lennart, Ellinghaus Eva
Abstract excerpt
Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders. Here, in the largest genetic study performed in CVID to date, we...
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