布鲁顿酪氨酸激酶
外周血单个核细胞
免疫球蛋白E
抗体
免疫学
表型
生物
基因
突变
B细胞
分子生物学
遗传学
体外
信号转导
酪氨酸激酶
作者
Hideo Kaneko,Norio Kawamoto,T. Asano,Y Mabuchi,Hiroko Horikoshi,T Teramoto,Eisuke Matsui,Masashi Kondo,Toshiyuki Fukao,K Kasahara,N Kondo
标识
DOI:10.1111/j.1365-2249.2005.02784.x
摘要
Summary X-linked agammaglobulinaemia (XLA) is an inherited immunodeficiency that is caused by a block in early B-cell differentiation. Whereas early B precursors in the bone marrow are present in substantial numbers, XLA-affected individuals have dramatically reduced numbers of circulating mature B cells, plasma cells and immunoglobulins of all isotypes. We report on a Japanese family with 3 XLA patients, in whom the serum immunoglobulin levels and number of B cells showed a significant difference among them in spite of harbouring the same splice donor site mutation in the BTK gene. We developed concise method for detection of this mutation, which is helpful for discovering the carrier. Patient 2 showed a significant serum immunoglobulin levels of all isotypes, including allergen-specific IgE. Expression of a normal and truncated size BTK gene was detected in patient 2′s peripheral blood mononuclear cells (PBMCs). Expression of BTK protein was also detected in some B cells. These results suggest that the leaky phenotype in patient 2 was caused in part by the expression of a normal BTK gene transcript. The increased frequency of infection with age expanded the number of B cells with normal BTK gene expression and produced the serum immunoglobulin, including IgE.
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