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严重强直性脊柱炎和弥漫性系统性硬化症:一个基因陷阱的病例报告

Severe ankylosing spondylitis and diffuse systemic sclerosis: case report of a genetic trap.

作者信息

Kayser C, Alvarenga M C V, Neves A S, Gerbase-De Lima M, Andrade L E C

机构信息

Department of Rheumatology, Sao Paulo Federal University, UNIFESP, São Paulo, Brazil.

出版信息

Scand J Rheumatol. 2005 Mar-Apr;34(2):145-7. doi: 10.1080/03009740510026346.

DOI:10.1080/03009740510026346
PMID:16095012
Abstract

A rare association of ankylosing spondylitis (AS) and systemic sclerosis (SSc) is reported in a Brazilian Mestizo patient presenting a human leucocyte antigen (HLA) genotype that included HLA SSc-susceptibility genes previously reported in different ethnic groups and HLA-B27 associated with AS. The underlying genetic background supporting the full expression of both SSc- and AS-susceptibility alleles and the pertinent literature are discussed.

摘要

在一名巴西混血患者中报告了强直性脊柱炎(AS)与系统性硬化症(SSc)的罕见关联,该患者的人类白细胞抗原(HLA)基因型包括先前在不同种族群体中报道的与SSc易感性相关的基因以及与AS相关的HLA - B27。本文讨论了支持SSc和AS易感性等位基因充分表达的潜在遗传背景以及相关文献。

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