Lamhamedi S, Jouanguy E, Altare F, Roesler J, Casanova J L
Laboratoire INSERM U429, Pavillon Kirmisson, Hopital Necker Enfants Malades, Paris, France.
Int J Mol Med. 1998 Feb;1(2):415-8. doi: 10.3892/ijmm.1.2.415.
Interferon-gamma receptor ligand binding chain (IFNgammaR1) deficiency is an autosomal recessive inherited immune disorder. Mutations in the IFNgR1 gene are associated with severe infections due to mycobacteria. However, several aspects of the phenotype of IFNgammaR1-deficient children have recently been found to vary from case to case. This review thus discusses the respective roles of the genotype and of the environment in determining phenotypic variations among affected children.
γ干扰素受体配体结合链（IFNγR1）缺陷是一种常染色体隐性遗传性免疫疾病。IFNγR1基因的突变与分枝杆菌引起的严重感染有关。然而，最近发现IFNγR1缺陷儿童的表型在不同病例之间存在差异。因此，本综述讨论了基因型和环境在决定受影响儿童表型变异中的各自作用。
