Altare F, Jouanguy E, Lamhamedi S, Döffinger R, Fischer A, Casanova J L
Institut National de la Santé et de la Recherche Médicale, Unité 429, Hôpital Necker-Enfants Malades, Paris, France.
Curr Opin Immunol. 1998 Aug;10(4):413-7. doi: 10.1016/s0952-7915(98)80114-3.
Selective susceptibility to poorly pathogenic mycobacteria, such as bacille Calmette-Guérin vaccine and environmental non-tuberculous mycobacteria, has long been suspected to be a mendelian disorder but its molecular basis has remained elusive. Recently, recessive mutations in the interferon-gamma-receptor receptor ligand-binding chain, interferon-gamma-receptor signalling chain, IL-12 p40 subunit and IL-12-receptor beta 1 chain genes have been identified in a number of patients with disseminated mycobacterial infection. Although genetically distinct, these conditions are immunologically related and highlight the essential role of interferon-gamma-mediated immunity in the control of mycobacteria in man.
长期以来，人们一直怀疑对致病性较弱的分枝杆菌（如卡介苗和环境非结核分枝杆菌）的选择性易感性是一种孟德尔疾病，但其分子基础一直难以捉摸。最近，在一些播散性分枝杆菌感染患者中，已鉴定出干扰素-γ受体配体结合链、干扰素-γ受体信号链、白细胞介素-12 p40亚基和白细胞介素-12受体β1链基因中的隐性突变。尽管这些疾病在遗传上各不相同，但在免疫方面存在关联，并突出了干扰素-γ介导的免疫在人类控制分枝杆菌中的重要作用。
