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IgA缺乏症的遗传学

Genetics of IgA deficiency.

作者信息

Truedsson L, Baskin B, Pan Q, Rabbani H, Vorĕchovský I, Smith C I, Hammarström L

机构信息

Department of Medical Microbiology, Lund University, Sweden.

出版信息

APMIS. 1995 Dec;103(12):833-42. doi: 10.1111/j.1699-0463.1995.tb01442.x.

Abstract

IgA deficiency is the most common humoral defect in man and results in an increased susceptibility to respiratory tract and gastrointestinal infections. Both clinical and genetic data support a close relationship with common variable immunodeficiency, a disease which involves not only IgA and IgG production, but also, in half of the patients, IgM. It is likely that the two disorders represent an allelic condition with a variable expression of a common gene defect which is thought to be involved in the regulation of immunoglobulin class switching. It is possible that a single, autosomally inherited gene with a limited penetrance is responsible for the development of both these defects.

摘要

IgA缺乏是人类最常见的体液免疫缺陷,会导致呼吸道和胃肠道感染易感性增加。临床和遗传学数据均支持其与常见变异型免疫缺陷密切相关,这种疾病不仅涉及IgA和IgG的产生,而且在半数患者中还涉及IgM。这两种疾病很可能代表一种等位基因状态,有着共同基因缺陷的可变表达,而该基因缺陷被认为参与免疫球蛋白类别转换的调控。有可能一个单一的、常染色体遗传且外显率有限的基因导致了这两种缺陷的发生。

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