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功能获得性信号转导和转录激活因子1（STAT1）突变相关的原发性免疫缺陷与播散性毛霉菌病相关。

Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.

作者信息

Kumar Nilay, Hanks Mary E, Chandrasekaran Prabha, Davis Brian C, Hsu Amy P, Van Wagoner Nicholas J, Merlin Jessica S, Spalding Christine, La Hoz Ricardo M, Holland Steven M, Zerbe Christa S, Sampaio Elizabeth P

机构信息

Department of Medicine, University of Alabama at Birmingham, Birmingham, Ala.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

出版信息

J Allergy Clin Immunol. 2014 Jul;134(1):236-9. doi: 10.1016/j.jaci.2014.02.037. Epub 2014 Apr 4.

DOI:10.1016/j.jaci.2014.02.037
PMID:24709374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4125455/
Abstract

We identified a novel gain of function mutation in in a patient with disseminated infection who had never had mucocutaneous candidiasis or autoimmunity. To our knowledge this is the first report of a genetic predisposition associated with mucormycosis.

摘要

我们在一名播散性感染患者中发现了一种新的功能获得性突变，该患者从未患过黏膜皮肤念珠菌病或自身免疫性疾病。据我们所知，这是第一份与毛霉病相关的遗传易感性报告。

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2
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J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25.
3
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