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[白塞病遗传学的最新研究发现]

[Recent findings on the genetics of Behçet's disease].

作者信息

Hüe-Lemoine S, Amoura Z, Wechsler B, Piette J C, Caillat-Zucman S

机构信息

Laboratoire d'Immunologie, Hôpital Necker, Paris.

出版信息

Ann Med Interne (Paris). 1999 Oct;150(6):499-503.

Abstract

Behçet's disease is a systemic inflammatory disease with a multifactorial genetic and environmental pathogenesis. The main factor of genetic predisposition is located in the HLA region. The disease is significantly linked with the HLA-B51 antigen in different ethnic groups. Recently, a linkage with MICA gene polymophism has been evidenced. This gene, located 46 kb centromerically from the HLA-B gene, codes for a non-classic HLA class I protein induced by stress and probably plays an important role in the destruction of cells targeted by Tgd lymphocytes. The functional significance of this polymorphism in Behçet's disease remains unclear.

摘要

白塞病是一种具有多因素遗传和环境发病机制的全身性炎症性疾病。遗传易感性的主要因素位于人类白细胞抗原(HLA)区域。在不同种族群体中,该疾病与HLA - B51抗原显著相关。最近,已证实与MICA基因多态性存在联系。该基因位于距HLA - B基因着丝粒46千碱基处,编码一种由应激诱导的非经典HLA - I类蛋白,可能在被Tgd淋巴细胞靶向的细胞破坏中起重要作用。这种多态性在白塞病中的功能意义尚不清楚。

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