Sharma Varun K, Pai Gautham, Deswarte Caroline, Lodha Rakesh, Singh Sarman, Kang Liew Woei, Yin Chong Chia, Casanova Jean-Laurent, Bustamante Jacinta, Kabra Sushil K
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India,
J Clin Immunol. 2015 Jul;35(5):459-62. doi: 10.1007/s10875-015-0173-1. Epub 2015 Jun 9.
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD patients are involved in IFN-γ immunity. Autosomal partial dominant (PD) interferon-γ receptor 1 (IFN-γR1) deficiency is the most frequent abnormality affecting the group of MSMD patients leading to impaired response of IFN-γ. We describe here a patient from India with disseminated infection due to Mycobacterium avium intracellulare (MAC) including multifocal osteomyelitis and BCG disease. A heterozygous mutation in exon 6 of IFNGR1 gene was identified, conferring an autosomal PD IFN-γR1 deficiency. Patient had recurrence of mycobacterial disease during antibiotic therapy for which subcutaneous IFN-γ was added as a modality of treatment for resistant MAC infection.
孟德尔易感性分枝杆菌病（MSMD）是一种罕见病症，其特征为由弱毒力分枝杆菌引起的临床疾病。所有在MSMD患者中发生突变的基因都参与了γ干扰素免疫反应。常染色体部分显性（PD）γ干扰素受体1（IFN-γR1）缺陷是影响MSMD患者群体的最常见异常情况，导致γ干扰素反应受损。我们在此描述一名来自印度的患者，该患者因鸟分枝杆菌胞内复合群（MAC）感染而出现播散性感染，包括多灶性骨髓炎和卡介苗病。在IFNGR1基因外显子6中鉴定出一个杂合突变，导致常染色体PD IFN-γR1缺陷。患者在针对耐药MAC感染的抗生素治疗期间出现分枝杆菌病复发，为此添加了皮下注射γ干扰素作为一种治疗方式。
