Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

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 h...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2013
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824125/
https://ncbi.nlm.nih.gov/pubmed/24140114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.09.009
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