Tsolia Maria N, Chapgier Ariane, Taprantzi Polyxeni, Servitzoglou Marina, Tassios Ioannis, Spyridis Nikolaos, Papageorgiou Fotini, Santos Orchidée Filipe, Casanova Jean-Laurent, Spyridis Panayotis
Second Department of Pediatrics, P. and A. Kyriakou Children's Hospital, Athens University School of Medicine, 115 27 Athens, Greece.
Eur J Pediatr. 2006 Jul;165(7):458-61. doi: 10.1007/s00431-006-0110-7. Epub 2006 Apr 7.
We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing, poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-gamma receptor 1 gene (IFNgammaR1) revealed that he was homozygous for a novel null mutation, 453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNgammaR1 deficiency. The spectrum of IFNgammaR1 genotypes associated with this immunological disorder is expanding.
我们描述了一名2岁男孩的病例，他感染了一种快速生长、致病性较弱的分枝杆菌属细菌，该细菌属于偶然分枝杆菌-龟分枝杆菌复合体。他的病程严重，特点是对治疗反应不佳且反复形成淋巴结脓肿。干扰素-γ受体1基因（IFNgammaR1）测序显示，他是一种新型无效突变453delT的纯合子。对于出现由快速生长的环境分枝杆菌引起的播散性感染的患者，必须对其进行全面的IFNgammaR1缺乏症调查。与这种免疫疾病相关的IFNgammaR1基因型谱正在扩大。
