Delerminalion of polymorphisms associated with tuberculosis or asthma.

分枝杆菌感染干扰素-γ介导的免疫在宿主抵御病原体，特别是分枝杆菌方面发挥着重要作用。对患有卡介苗(BCG)骨髓炎或反复分支杆菌感染的日本儿童进行了与IL-I2依赖、干扰素-伽马介导的免疫相关的基因突变评估。在3例无亲缘关系的患者中检测到杂合性缺失和移码(818del4和811del4)，这些杂合性缺失与部分显性干扰素-γ受体1缺乏的诊断一致。这项研究表明，干扰素-γ-受体1基因分析将有助于确定分枝杆菌感染的易感性(J Infect Dis 2002)。我们调查了日本人群中Th1/Th2相关分子与特应性哮喘的关系。对于IFNG、IFNGR1、IFNGR2、IL-13受体、IL-13、FcεR、CD28、CTLA-4、SLAM、组胺受体1、2和组胺N-甲基转移酶基因，未观察到相关性。IL-4、IL-4受体和IRF1基因与特应性哮喘显著相关。因此，对IL-4、IL-4受体和IRF1基因多态性的分析将有助于确定特应性哮喘患者的个体(J过敏性Clin免疫学杂志2000)。

Mycobacterial infectionsIFN-gamma-mediated immunity plays an important role in host defense against ituraceliuiar pathogens, especially mycobacteria. Japanese children with bacille Calmelte-Guerin (BCG) osteomyelitis or recurrent mycobacterial infections were evaluated for mutations of genes involved in IL-I2-dependent, IFN-gamma-mediated immunity. Heterozygous smalt deletions with frameshift (818del4 and 811del4) that are consistent with the diagnosis of partial dominant IFN-gamma receptor 1 deficiency were detected in 3 unrelated patients. This study demonstrated that IFN-gammaR1 gene analysis would be useful in the determination of individuals who are susceptible to mycobacterial infections (J Infect Dis 2002).AsthmaWe investigated the association of Th1/Th2-related molecules and atopic asthma in Japanese population. With regard to IFNG, IFNGR1, IFNGR2, IL-13 receptor, IL-13, FcεR, CD28, CTLA-4, SLAM, histamine receptor 1, 2, and histamine N-methyltransferase genes, no associations were observed. IL-4, IL-4 receptor, and IRF1 genes showed significant associations with atopic asthma. Thus, analysis of IL-4, IL-4 receptor, and IRF1 polymorphisms would be useful in the determination of individuals of atopic asthma (J Allergy Clin Immunol 2000).