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MEFV突变携带者与除家族性地中海热之外的其他疾病:已证实和未证实的关联;假定的生物学优势。

MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage.

作者信息

Cattan Daniel

机构信息

Praticien Hospitalier, Faculté de Médecine de Créteil, Centre Hospitalier, F 94195 Villeneuve-Saint-Georges, France.

出版信息

Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):105-12. doi: 10.2174/1568010053622948.

DOI:10.2174/1568010053622948
PMID:15720243
Abstract

Vasculitis is definitely associated with familial Mediterranean fever. This familial Mediterranean fever-associated vasculitis takes one of three forms: polyarteritis nodosa, with or without microscopic polyangiitis, and Henoch-Schonlein purpura. Behcet disease and inflammatory bowel diseases may also be associated with familial Mediterranean fever, though this is yet to be formally proven. The selective biological advantage, if any, for carriers of simple heterozygotic mutations in the gene responsible for familial Mediterranean fever, MEFV, is not known. Indirect arguments are given for a better defense against certain groups of bacterial pathogens and amongst intra-cellular bacteria, Mycobacterium tuberculosis.

摘要

血管炎肯定与家族性地中海热相关。这种与家族性地中海热相关的血管炎有三种形式之一:结节性多动脉炎,伴或不伴显微镜下多血管炎,以及过敏性紫癜。白塞病和炎症性肠病也可能与家族性地中海热相关,尽管这尚未得到正式证实。对于家族性地中海热相关基因MEFV中简单杂合突变携带者而言,若有任何选择性生物学优势,目前尚不清楚。有间接证据表明,这可能对抵御某些细菌病原体群体,以及细胞内细菌结核分枝杆菌更有帮助。

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