Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

Common variable immunodeficiency (CVID), characterized by recurrent infections, is the most prevalent symptomatic antibody deficiency. In ∼90% of CVID-affected individuals, no genetic cause of the disease has been identified. In a Dutch-Australian CVID-affected family, we identified a NFKB1 heterozy...

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Publicado no:Am J Hum Genet
Main Authors: Fliegauf, Manfred, L. Bryant, Vanessa, Frede, Natalie, Slade, Charlotte, Woon, See-Tarn, Lehnert, Klaus, Winzer, Sandra, Bulashevska, Alla, Scerri, Thomas, Leung, Euphemia, Jordan, Anthony, Keller, Baerbel, de Vries, Esther, Cao, Hongzhi, Yang, Fang, Schäffer, Alejandro A., Warnatz, Klaus, Browett, Peter, Douglass, Jo, Ameratunga, Rohan V., van der Meer, Jos W.M., Grimbacher, Bodo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4564940/
https://ncbi.nlm.nih.gov/pubmed/26279205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.07.008
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