Glosli Heidi, Stray-Pedersen Asbjørg, Brun Anne C, Holtmon Lena W, Tønjum Tone, Chapgier Ariadne, Casanova Jean L, Abrahamsen Tore G
Department of Pediatrics, Rikshospitalet University Hospital, Oslo, Norway.
Clin Infect Dis. 2008 Feb 1;46(3):e23-7. doi: 10.1086/525855.
Atypical mycobacteria can cause systemic infections in patients with certain types of immunodeficiency.
Clinical samples were decontaminated and cultured to assess the presence of mycobacterial species. Gene sequencing was performed to reveal interferon-gamma receptor 1 (IFN-gamma R1) deficiency.
The index patient received a diagnosis of dominant IFN-gamma R1 deficiency during treatment for a serious infection due to atypical mycobacteria. She belongs to a Norwegian multiplex family comprising 3 generations and 5 patients with dominant IFN-gamma R1 deficiency. Four of these patients have been treated with tuberculostatics because of extensive infection due to atypical mycobacteria, such as Mycobacterium avium-intracellulare, Mycobacterium scrofulaceum, Mycobacterium bovis (bacille Calmette-Guérin), Mycobacterium bohemicum, and Mycobacterium gordonae. Two of the patients have also received subcutaneous injections of IFN-gamma. One family member with the deficiency has not received treatment and is still healthy at 13 years of age.
Serious infection due to atypical mycobacteria should initiate a search for primary immunodeficiencies, particularly IFN-gamma R1 deficiency. Treatment with IFN-gamma should be started when serious infection due to atypical mycobacteria is verified and dominant partial IFN-gamma R1 deficiency is suspected.
非典型分枝杆菌可在某些类型免疫缺陷患者中引起全身感染。
对临床样本进行去污和培养，以评估分枝杆菌种类的存在情况。进行基因测序以揭示γ干扰素受体1（IFN-γR1）缺陷。
该索引患者在因非典型分枝杆菌引起的严重感染治疗期间被诊断为显性IFN-γR1缺陷。她属于一个挪威的多重家庭，该家庭有三代人，5名患者患有显性IFN-γR1缺陷。其中4名患者因鸟分枝杆菌-胞内分枝杆菌、瘰疬分枝杆菌、牛分枝杆菌（卡介苗）、波希米亚分枝杆菌和戈登分枝杆菌等非典型分枝杆菌引起的广泛感染而接受了抗结核药治疗。其中2名患者还接受了皮下注射γ干扰素。1名有该缺陷的家庭成员未接受治疗，13岁时仍很健康。
非典型分枝杆菌引起的严重感染应促使寻找原发性免疫缺陷，尤其是IFN-γR1缺陷。当证实有非典型分枝杆菌引起的严重感染且怀疑有显性部分IFN-γR1缺陷时，应开始用γ干扰素治疗。
