Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis
نویسندگان
چکیده
منابع مشابه
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations
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 enco...
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ژورنال
عنوان ژورنال: Journal of Clinical Immunology
سال: 2014
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-014-0106-4