具有“渗漏”表型的X连锁无丙种球蛋白血症。
X linked agammaglobulinaemia with a 'leaky' phenotype.
作者信息
Jones A, Bradley L, Alterman L, Tarlow M, Thompson R, Kinnon C, Morgan G
机构信息
Molecular Immunology Unit, Institute of Child Health, London.
出版信息
Arch Dis Child. 1996 Jun;74(6):548-9. doi: 10.1136/adc.74.6.548.
Abstract
Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Demonstration of a mutation in the BTK gene confirms that this is a mild form of XLA.
摘要
典型的X连锁无丙种球蛋白血症（XLA）的特征是缺乏免疫球蛋白产生以及缺乏成熟B细胞。导致XLA的基因最近已被确定，它编码一种B细胞酪氨酸激酶，即BTK。本文描述了一个受B细胞免疫缺陷影响的家族，其症状比经典XLA轻，但其家系提示X连锁遗传。BTK基因突变的证实表明这是一种轻度形式的XLA。
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