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γ-分泌酶研究新进展:化脓性汗腺炎的功能遗传学研究

Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.

机构信息

Center for Cutaneous Biology and Immunology Research, Department of Dermatology, Henry Ford Health System, Detroit, Michigan, USA; Immunology Research Program, Henry Ford Cancer Institute, Henry Ford Health System, Detroit, Michigan, USA.

Center for Cutaneous Biology and Immunology Research, Department of Dermatology, Henry Ford Health System, Detroit, Michigan, USA; Immunology Research Program, Henry Ford Cancer Institute, Henry Ford Health System, Detroit, Michigan, USA; Wayne State University School of Medicine, Detroit, Michigan, USA.

出版信息

J Invest Dermatol. 2021 Aug;141(8):1888-1896. doi: 10.1016/j.jid.2021.01.023. Epub 2021 Apr 7.

Abstract

Hidradenitis suppurativa (HS) is a chronic, relapsing, and remitting inflammatory disease of the skin with significant heritability and racial disposition. The pathogenesis of HS remains enigmatic, but occlusion of the terminal hair follicle and dysregulation of the local innate immune response may contribute to pathogenesis. Genetic predisposition might also contribute to disease susceptibility and phenotypic heterogeneity because mutations in γ-secretase have been found to underlie a minor but characteristic subset of patients with HS. In this review, we synthesized the current data on γ-secretase in HS, evaluated its importance in the context of disease pathobiology, and discussed avenues of future studies.

摘要

化脓性汗腺炎(HS)是一种慢性、复发性和缓解性皮肤炎症,具有显著的遗传性和种族易感性。HS 的发病机制仍然很神秘,但终末毛囊的阻塞和局部先天免疫反应的失调可能有助于发病机制。遗传易感性也可能导致疾病易感性和表型异质性,因为已经发现 γ-分泌酶中的突变是少数具有 HS 特征性亚组患者的基础。在这篇综述中,我们综合了目前关于 HS 中 γ-分泌酶的研究数据,评估了其在疾病病理生理学中的重要性,并讨论了未来研究的方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83a0/8316262/cde638bd7bfa/nihms-1675057-f0001.jpg

相似文献

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The Genetics of Hidradenitis Suppurativa.化脓性汗腺炎的遗传学
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Hidradenitis suppurativa.化脓性汗腺炎。
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