Hatipoglu Nevin, Güvenç B Haluk, Deswarte Caroline, Koksalan Kaya, Boisson-Dupuis Stéphanie, Casanova Jean-Laurent, Bustamante Jacinta
Pediatrics Unit and
Pediatric Surgery Unit, Bakirkoy Dr Sadi Konuk Education and Training Hospital, Istanbul, Turkey.
Pediatrics. 2017 Nov;140(5). doi: 10.1542/peds.2016-1668. Epub 2017 Oct 12.
Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent and and also predisposition to chronic mucocutaneous candidiasis. Interleukin 12 receptor β1 (IL-12Rβ1) deficiency is the most common disease of Mendelian susceptibility to mycobacterial disease, and to date only 50 IL-12Rβ1 deficient patients with clinical signs of chronic mucocutaneous candidiasis have been reported. We report a 2.5-year-old daughter of consanguineous parents with both regional bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis carrying biallelic R175W mutation in the gene, resulting in complete loss of expression of IL-12Rβ1. To our knowledge, this is the first report of bacille Calmette-Guérin lymphadenitis with concurrent oral candidiasis displaying such a mutation. New mutations and wide clinical diversities are the indisputable fact of populations with a high rate of consanguineous marriages.
结核病是一个全球性的重大问题，预防结核病主要依靠减毒活卡介苗，而这种疫苗在免疫功能低下的宿主中可能引发疾病。健康儿童出现鹅口疮是不正常的，这表明存在潜在的免疫缺陷。孟德尔遗传性分枝杆菌病易感性是一种罕见的原发性免疫缺陷病，其特征是对弱毒力分枝杆菌有选择性易感性，并且还易患慢性黏膜皮肤念珠菌病。白细胞介素12受体β1（IL-12Rβ1）缺陷是孟德尔遗传性分枝杆菌病易感性中最常见的疾病，迄今为止，仅有50例有慢性黏膜皮肤念珠菌病临床症状的IL-12Rβ1缺陷患者被报道。我们报告了一名2.5岁的近亲结婚父母的女儿，她患有局部卡介苗淋巴结炎和复发性口腔念珠菌病，其基因存在双等位基因R175W突变，导致IL-12Rβ1表达完全缺失。据我们所知，这是首例伴有这种突变的卡介苗淋巴结炎并发口腔念珠菌病的报告。新的突变和广泛的临床多样性是近亲结婚率高的人群中无可争议的事实。
