Article
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
American journal of human genetics - 7 Nov 2013
Chen Karin, Coonrod Emily M, Kumánovics Attila, Franks Zechariah F, Durtschi Jacob D, Margraf Rebecca L, Wu Wilfred, Heikal Nahla M, Augustine Nancy H, Ridge Perry G, Hill Harry R, Jorde Lynn B, Weyrich Andrew S, Zimmerman Guy A, Gundlapalli Adi V, Bohnsack John F, Voelkerding Karl V
Abstract excerpt
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by antibody deficiency, poor humoral response to antigens, and recurrent infections. To investigate the molecular cause of CVID, we carried out exome sequence analysis of a family diagnosed with CVID and identified a heterozygous frameshift mutation, c.2564delA (p.Lys855Serfs(∗)7), in NFKB2 affecting the C terminus of NF-κB2 (also...
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