Ottenhoff T H, de Boer T, Verhagen C E, Verreck F A, van Dissel J T
Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Building 1, E3-Q, P.O. Box 9600, 2300 RC, The, Leiden, Netherlands.
Microbes Infect. 2000 Nov;2(13):1559-66. doi: 10.1016/s1286-4579(00)01312-5.
Studies on patients with idiopathic, severe infections due to poorly pathogenic mycobacteria and Salmonella have revealed that many of these patients are unable to produce or respond to interferon-gamma (IFN-gamma). This inability results from causative, deleterious genetic mutations in either one of four different genes in the type 1 cytokine cascade, encoding interleukin-12Rbeta1 (IL-12Rbeta1), IL-12p40, IFN-gammaR1 or IFN-gammaR2. The immunological phenotypes resulting from the seven groups of complete or partial deficiencies in type 1 cytokine (receptor) genes that have been distinguished thus far will be summarized and discussed, and placed in a broader context in relation to disease susceptibility.
对患有由致病性较弱的分枝杆菌和沙门氏菌引起的特发性严重感染患者的研究表明，这些患者中有许多人无法产生干扰素-γ（IFN-γ）或对其作出反应。这种无能是由1型细胞因子级联反应中四个不同基因之一的致病性有害基因突变导致的，这四个基因分别编码白细胞介素-12Rβ1（IL-12Rβ1）、IL-12p40、IFN-γR1或IFN-γR2。本文将总结并讨论迄今为止已区分出的1型细胞因子（受体）基因的七组完全或部分缺陷所导致的免疫表型，并将其置于与疾病易感性相关的更广泛背景中进行探讨。
