病例报告：一个 STAT1 功能增益突变家族中的麻风病和慢性皮肤黏膜念珠菌病双重感染。

IF 1.9 4区医学 Q3 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

American Journal of Tropical Medicine and Hygiene Pub Date : 2024-11-05 DOI:10.4269/ajtmh.24-0290

Lais Lima de Oliveira Rekowski, Gustavo Costa Caldas, Lucas Menezes-Silva, Camilla Natália Oliveira Santos, Lucas Sousa Magalhães, Rodrigo Anselmo Cazzaniga, Nailson Alves Dos Santos, Priscila Lima Santos, Ricardo Luís Louzada da Silva, Angela Maria da Silva, Steven M Holland, Amelia Ribeiro de Jesus

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引用次数: 0

摘要

本报告记录了已知的首例与 STAT1 基因功能增益突变有关的慢性皮肤粘膜念珠菌病（CMC）患者的麻风病病例。两例相关的患者是一对母女，她们都患有 CMC 和麻风病，都携带一个杂合 STAT1 基因突变（c.821G>A; p.R274Q）。这两个人的 CD4+ T 细胞中总 STAT1 和磷酸化 STAT1 的水平都很高，白细胞介素 17A 的转录物水平也很低。这一突变突显了遗传易感性与感染之间的复杂关系，以及对每个病例进行单独评估的必要性。

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查看原文本刊更多论文

Case Report: Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.

This report documents the first known cases of lepromatous leprosy in patients with chronic mucocutaneous candidiasis (CMC) linked to a gain-of-function mutation in the STAT1 gene. Two related patients, a mother and daughter, who both suffer from CMC and lepromatous leprosy, carry a heterozygous STAT1 mutation (c.821G>A; p.R274Q). Both individuals exhibited similarly high levels of total and phosphorylated STAT1 in CD4+ T cells and decreased interleukin 17A transcripts. This mutation underscores a complex relationship between genetic susceptibility to infections and the necessity to evaluate each case individually.

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来源期刊

American Journal of Tropical Medicine and Hygiene 医学-公共卫生、环境卫生与职业卫生

CiteScore

6.20

自引率

3.00%

发文量

508

审稿时长

3 months

期刊介绍： The American Journal of Tropical Medicine and Hygiene, established in 1921, is published monthly by the American Society of Tropical Medicine and Hygiene. It is among the top-ranked tropical medicine journals in the world publishing original scientific articles and the latest science covering new research with an emphasis on population, clinical and laboratory science and the application of technology in the fields of tropical medicine, parasitology, immunology, infectious diseases, epidemiology, basic and molecular biology, virology and international medicine. The Journal publishes unsolicited peer-reviewed manuscripts, review articles, short reports, images in Clinical Tropical Medicine, case studies, reports on the efficacy of new drugs and methods of treatment, prevention and control methodologies,new testing methods and equipment, book reports and Letters to the Editor. Topics range from applied epidemiology in such relevant areas as AIDS to the molecular biology of vaccine development. The Journal is of interest to epidemiologists, parasitologists, virologists, clinicians, entomologists and public health officials who are concerned with health issues of the tropics, developing nations and emerging infectious diseases. Major granting institutions including philanthropic and governmental institutions active in the public health field, and medical and scientific libraries throughout the world purchase the Journal. Two or more supplements to the Journal on topics of special interest are published annually. These supplements represent comprehensive and multidisciplinary discussions of issues of concern to tropical disease specialists and health issues of developing countries