Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
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DOI：
10.1056/nejm199405263302104
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发表时间：
1994-05
期刊：
影响因子：
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通讯作者：
D. Saffran;O. Parolini;M. Fitch-Hilgenberg;David J. Rawlings;D. Afar;Owen N. Witte;M. E. Conley
中科院分区：
文献类型：
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作者：
D. Saffran;O. Parolini;M. Fitch-Hilgenberg;David J. Rawlings;D. Afar;Owen N. Witte;M. E. Conley
X连锁无丙种球蛋白血症是一种典型的体液免疫缺陷，由 Bruton 于 19521 年首次描述。其特征是循环 B 细胞缺乏和免疫球蛋白血清浓度急剧降低2,3。分析 X 染色体失活模式的研究表明，遗传缺陷是 B 细胞谱系所固有的，4 并且绘图研究将缺陷定位在 X 染色体长臂中部 Xq225-7 处。最近，两份报告表明，细胞质酪氨酸激酶基因 Btk（布鲁顿氏酪氨酸激酶的基因，以前称为 bpk 或 atk）的突变为 。 。 。
X-Linked Agammaglobulinemia is the prototypical humoral immunodeficiency first described by Bruton in 19521. It is characterized by a paucity of circulating B cells and a drastic reduction in the serum concentrations of immunoglobulins2,3. Studies analyzing patterns of X chromosome inactivation showed that the genetic defect was intrinsic to the B-cell lineage,4 and mapping studies located the defect in the midportion of the long arm of the X chromosome at Xq225–7. Recently, two reports demonstrated that mutations of the cytoplasmic tyrosine kinase gene Btk (the gene for Bruton's tyrosine kinase, previously designated bpk or atk) are . . .