Article
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
The Journal of allergy and clinical immunology - 1 Aug 2016
Keller Michael D, Pandey Rahul, Li Dong, Glessner Joseph, Tian Lifeng, Henrickson Sarah E, Chinn Ivan K, Monaco-Shawver Linda, Heimall Jennifer, Hou Cuiping, Otieno Frederick G, Jyonouchi Soma, Calabrese Leonard, van Montfrans Joris, Orange Jordan S, Hakonarson Hakon
Abstract excerpt
BACKGROUND: Genome-wide association studies have shown a pattern of rare copy number variations and single nucleotide polymorphisms in patients with common variable immunodeficiency disorder (CVID), which was recognizable by a support vector machine (SVM) algorithm. However, rare monogenic causes of CVID might lack such a genetic fingerprint. OBJECTIVE: We sought to identify a unique monogenic cause of familial...
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