Article
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.
The Journal of experimental medicine - 19 Nov 2012
Snow Andrew L, Xiao Wenming, Stinson Jeffrey R, Lu Wei, Chaigne-Delalande Benjamin, Zheng Lixin, Pittaluga Stefania, Matthews Helen F, Schmitz Roland, Jhavar Sameer, Kuchen Stefan, Kardava Lela, Wang Wei, Lamborn Ian T, Jing Huie, Raffeld Mark, Moir Susan, Fleisher Thomas A, Staudt Louis M, Su Helen C, Lenardo Michael J
Abstract excerpt
Nuclear factor-κB (NF-κB) controls genes involved in normal lymphocyte functions, but constitutive NF-κB activation is often associated with B cell malignancy. Using high-throughput whole transcriptome sequencing, we investigated a unique family with hereditary polyclonal B cell lymphocytosis. We found a novel germline heterozygous missense mutation (E127G) in affected patients in the gene encoding CARD11, a...
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