Congenital B cell lymphocytosis explained by novel germline CARD11 mutations
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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Diffuse large B cell lymphoma (DLBCL) is the most common form of non-Hodgkin's lymphoma. In the least curable (ABC) subtype of DLBCL, survival of the malignant cells is dependent on constitutive activation of the nuclear factor-kappaB (NF-kappaB) signaling pathway. In normal B cells, antigen receptor-induced NF-kappaB activation requires CARD11, a cytoplasmic scaffolding protein. To determine w...
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ژورنال
عنوان ژورنال: Journal of Experimental Medicine
سال: 2012
ISSN: 1540-9538,0022-1007
DOI: 10.1084/jem.20120831