Pediatric Immunology and Rheumatology Division, Department of Pediatrics, Aster CMI Hospital, Bangalore, India.
Department of Pediatrics, St. John's Medical College Hospital, Bangalore, India.
J Clin Immunol. 2019 Aug;39(6):596-599. doi: 10.1007/s10875-019-00664-x. Epub 2019 Jul 10.
IL-17-mediated signaling is crucial in defense against fungi and bacteria. Defective Th17 immunity has been implicated in a group of disorders called chronic mucocutaneous candidiasis (CMC). TRAF3IP2 is an adaptor protein involved in downstream signaling for IL-17 receptors.
An 18-year-old boy, product of consanguineous wedlock, presented with history of repeated episodes of oral thrush and recurrent pneumonia from first year of life. On examination, he was wasted and had oral thrush and abnormal dentition; grade 2 clubbing and respiratory system examination revealed coarse crepitations. On evaluation, HIV status was negative and basic immunological screen was unrewarding. Genetic testing by next-generation sequencing showed a novel homozygous mutation in TRAF3IP2 gene not reported to date. The defect is likely to cause ACT1 deficiency. He was started on antibiotic and antifungal prophylaxis and remains well on follow-up.
We describe an adolescent boy with recurrent oral candidiasis and bronchiectasis due to a novel mutation in TRAF3IP2 gene, not reported to date. This is also the only second report of CMC due to ACT1 deficiency.
IL-17 介导的信号通路对于防御真菌和细菌至关重要。Th17 免疫缺陷与一类被称为慢性黏膜皮肤念珠菌病（CMC）的疾病有关。TRAF3IP2 是一种衔接蛋白，参与 IL-17 受体的下游信号转导。
一名 18 岁男孩，近亲结婚所生，从出生第一年开始就反复出现口腔鹅口疮和复发性肺炎。体格检查显示患者消瘦，有口腔鹅口疮和异常的牙齿；2 级指（趾）端膨大，呼吸系统检查有粗湿啰音。评估显示 HIV 阴性，基础免疫筛查未见异常。下一代测序的基因检测显示 TRAF3IP2 基因有一个新的纯合突变，以前未报道过。该缺陷可能导致 ACT1 缺乏。他开始接受抗生素和抗真菌预防治疗，随访情况良好。
我们描述了一名青少年男性，因 TRAF3IP2 基因的新突变而反复出现口腔念珠菌病和支气管扩张，以前未报道过。这也是 ACT1 缺乏引起的 CMC 的第二例报告。
