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A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.一名因STAT1功能获得性突变继发支气管扩张、慢性黏膜皮肤念珠菌病和甲状腺功能减退的儿童：病例报告及文献复习
Clin Case Rep. 2022 Apr 26;10(4):e05791. doi: 10.1002/ccr3.5791. eCollection 2022 Apr.
2
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.信号转导和转录激活因子1（STAT1）的功能获得性突变：一种导致慢性黏膜皮肤念珠菌病的新型遗传因素。
Acta Microbiol Immunol Hung. 2017 Jun 1;64(2):191-201. doi: 10.1556/030.64.2017.014. Epub 2017 Jun 9.
3
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.人类 STAT1 功能获得性杂合突变：慢性黏膜皮肤念珠菌病和 I 型干扰素病。
J Clin Immunol. 2020 Nov;40(8):1065-1081. doi: 10.1007/s10875-020-00847-x. Epub 2020 Aug 27.
4
Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report.伴有STAT1突变的常染色体显性遗传性慢性黏膜皮肤念珠菌病可能与慢性活动性肝炎相关：一例报告。
Front Pediatr. 2023 Jan 6;10:990729. doi: 10.3389/fped.2022.990729. eCollection 2022.
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The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.26例因信号转导和转录激活因子1（STAT1）功能获得性突变所致慢性黏膜皮肤念珠菌病患者的扩展临床表型
J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25.
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Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With Gain-of-Function Mutation: Detailed Clinicopathological Findings.支气管扩张症和支气管扩张症伴严重疝出模式与功能获得性突变相关：详细的临床病理发现。
Pediatr Dev Pathol. 2021 Mar-Apr;24(2):131-136. doi: 10.1177/1093526620985950. Epub 2021 Jan 13.
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Case Report: A New Gain-of-Function Mutation of Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association.病例报告：一名患有慢性黏膜皮肤念珠菌病和类酒渣鼻蠕形螨病患者中发现的一个新的功能获得性突变：一种新出现的关联。
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Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.新型 STAT1 功能获得性突变导致的慢性黏膜皮肤念珠菌病患儿使用芦可替尼的疗效。
J Clin Immunol. 2018 Jul;38(5):589-601. doi: 10.1007/s10875-018-0519-6. Epub 2018 Jun 22.
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Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of in a Chinese boy.慢性口腔黏膜皮肤念珠菌病、反复呼吸道感染、肝脾肿大和自身免疫性糖尿病：一名中国男孩中功能获得性突变的病例报告。
Front Pediatr. 2022 Oct 11;10:1001290. doi: 10.3389/fped.2022.1001290. eCollection 2022.
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Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.STAT1 种系获得性功能和失能性功能突变的临床意义：系统综述。
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Infect Drug Resist. 2024 May 10;17:1869-1877. doi: 10.2147/IDR.S456121. eCollection 2024.

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1
COVID-19 in Patients with Primary Immunodeficiency.原发性免疫缺陷患者的新冠病毒病
J Clin Immunol. 2021 Oct;41(7):1515-1522. doi: 10.1007/s10875-021-01065-9. Epub 2021 Jul 6.
2
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?在接受鲁索替尼治疗的儿科 STAT1 功能获得性患者中感染新型冠状病毒 2 型——平衡问题？
J Clin Immunol. 2021 Oct;41(7):1502-1506. doi: 10.1007/s10875-021-01081-9. Epub 2021 Jun 9.
3
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.STAT1 种系获得性功能和失能性功能突变的临床意义：系统综述。
Front Immunol. 2021 Mar 11;12:654406. doi: 10.3389/fimmu.2021.654406. eCollection 2021.
4
Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male.慢性假丝酵母菌感染、支气管扩张、免疫球蛋白异常和发育迟缓：一例青少年男性 STAT1(c.986C>G) 自然突变的病例报告。
BMC Infect Dis. 2021 Jan 7;21(1):38. doi: 10.1186/s12879-020-05734-9.
5
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.先天性免疫缺陷患者的 2019 年冠状病毒病：一项国际研究。
J Allergy Clin Immunol. 2021 Feb;147(2):520-531. doi: 10.1016/j.jaci.2020.09.010. Epub 2020 Sep 24.
6
Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency.患者 STAT1 功能获得性突变致进行性支气管扩张和先天性黏液纤毛清除缺陷症：一种罕见的原发性免疫缺陷病。
Adv Respir Med. 2020;88(3):271-277. doi: 10.5603/ARM.2020.0112.
7
Bronchiectasis and Recurrent Respiratory Infections with a Gain-of-Function Variant: First Case in Korea.具有功能获得性变异的支气管扩张症和反复呼吸道感染：韩国首例病例
Yonsei Med J. 2018 Oct;59(8):1004-1007. doi: 10.3349/ymj.2018.59.8.1004.
8
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.由于STAT1基因杂合功能获得性突变导致的严重早发性联合免疫缺陷
J Clin Immunol. 2016 Oct;36(7):641-8. doi: 10.1007/s10875-016-0312-3. Epub 2016 Jul 5.
9
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.杂合性信号转导和转录激活因子1（STAT1）功能获得性突变是一种临床表型出人意料广泛的疾病的基础。
Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.
10
Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.黏膜皮肤免疫抵抗念珠菌属和葡萄球菌属的分子机制。
J Allergy Clin Immunol. 2012 Nov;130(5):1019-27. doi: 10.1016/j.jaci.2012.09.011. Epub 2012 Oct 3.

一名因STAT1功能获得性突变继发支气管扩张、慢性黏膜皮肤念珠菌病和甲状腺功能减退的儿童：病例报告及文献复习

A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.

作者信息

Alidrisi Dhuha, Maksood Lama, Alqahtani Wed, Minshawi Faisal, Aburziza Abdullah, Janem Waleed F, Almatrafi Mohammed A

机构信息

Department of Pediatrics Security Forces Hospital Makkah Saudi Arabia.

Medical College of Umm Al-Qura University Makkah Saudi Arabia.

出版信息

Clin Case Rep. 2022 Apr 26;10(4):e05791. doi: 10.1002/ccr3.5791. eCollection 2022 Apr.

DOI:10.1002/ccr3.5791
PMID:35498362
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9040560/
Abstract

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long-term sequelae.

摘要

信号转导及转录激活因子1（STAT 1）功能获得性突变是儿童原发性免疫缺陷的罕见病因。复发性黏膜皮肤念珠菌病、胸部感染和自身免疫性疾病都是典型的表型表现。使用全外显子测序快速识别和诊断这种使人衰弱的疾病可能会改善治疗结果并将长期后遗症降至最低。