van Dissel J T, Ottenhoff T H
Afd. Infectieziekten, Leids Universitair Medisch Centrum, Leiden.
Ned Tijdschr Geneeskd. 2000 Sep 16;144(38):1830-2.
In patients with severe and relapsing infections with non-tuberculous mycobacteria and Salmonella autosomal recessive as well as dominant-negative mutations are shown in genes for receptors of type-1 cytokines: the IL-12 receptor and the IFN-gamma receptor. In case of an impaired capacity to produce these cytokines or--given an abnormal receptor--to react to them, the cellular immune reaction does not run a normal course and the susceptibility to infection by intracellular pathogens is enhanced.
在患有严重且复发性非结核分枝杆菌和沙门氏菌感染的患者中，1型细胞因子受体基因存在常染色体隐性和显性负性突变：白细胞介素-12受体和干扰素-γ受体。如果产生这些细胞因子的能力受损，或者鉴于受体异常而对它们无反应，细胞免疫反应就无法正常进行，对细胞内病原体感染的易感性就会增强。
