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。

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

作者信息

Toubiana Julie, Okada Satoshi, Hiller Julia, Oleastro Matias, Lagos Gomez Macarena, Aldave Becerra Juan Carlos, Ouachée-Chardin Marie, Fouyssac Fanny, Girisha Katta Mohan, Etzioni Amos, Van Montfrans Joris, Camcioglu Yildiz, Kerns Leigh Ann, Belohradsky Bernd, Blanche Stéphane, Bousfiha Aziz, Rodriguez-Gallego Carlos, Meyts Isabelle, Kisand Kai, Reichenbach Janine, Renner Ellen D, Rosenzweig Sergio, Grimbacher Bodo, van de Veerdonk Frank L, Traidl-Hoffmann Claudia, Picard Capucine, Marodi Laszlo, Morio Tomohiro, Kobayashi Masao, Lilic Desa, Milner Joshua D, Holland Steven, Casanova Jean-Laurent, Puel Anne

机构信息

Department of General Pediatrics and Pediatric Infectious Diseases, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; Pediatric Hematology-Immunology-Rheumatology Unit, AP-HP, Necker-Enfants Malades Hospital, Paris, France;

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan;

出版信息

Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.

Abstract

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guérin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.

摘要

自2011年在常染色体显性遗传(AD)慢性黏膜皮肤念珠菌病(CMC)患者中发现杂合性信号转导和转录激活因子1(STAT1)功能获得性(GOF)突变以来,全球范围内越来越多地发现了此类突变。与之相关的临床谱需要加以描述。我们纳入了来自五大洲40个国家167个家族的274例患者。记录了人口统计学数据、临床特征、免疫参数、治疗情况及预后。274例患者的中位年龄为22岁(范围1至71岁);其中98%患有CMC,中位发病年龄为1岁(范围0至24岁)。患者常出现细菌感染(74%),主要由金黄色葡萄球菌引起(36%),分别有47%和28%的患者感染累及呼吸道和皮肤,还有病毒感染(38%),主要由疱疹病毒科引起(83%),32%的患者感染累及皮肤。侵袭性真菌感染(10%),主要由念珠菌属引起(29%),以及由结核分枝杆菌、环境分枝杆菌或卡介苗引起的分枝杆菌病(6%)则较少见。许多患者有自身免疫表现(37%),包括甲状腺功能减退(22%)、1型糖尿病(4%)、血细胞减少(4%)和系统性红斑狼疮(2%)。侵袭性感染(25%)、脑动脉瘤(6%)和癌症(6%)是预后不良的最强预测因素。在接受长期抗真菌治疗的202例患者中,39%的患者CMC持续存在。在大多数(82%)但并非所有接受检测的患者中,循环中产生白细胞介素-17A的T细胞计数较低。STAT1 GOF突变是AD CMC的基础,同时还伴有一系列出人意料的其他临床特征,不仅包括多种感染性和自身免疫性疾病,还包括预后不良的脑动脉瘤和癌症。

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