J Med Genet. 2010 Sep;47(9):635-7. doi: 10.1136/jmg.2009.071910.
Genetic defects in the IL-12-IL-23/IFN-gamma circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-gamma axis is essential for anti-tumoral immunity in mice. Cancer susceptibility has not been recognised in these patients so far. We report three relatives with IL-12R beta 1 deficiency. At the age of 25 years old, one patient presented with oesophageal squamous cell carcinoma (OSCC). The patient had no previous risk factors for OSCC. He died at the age of 29 years. OSCC is exceedingly rare in individuals under 30 years and frequently relates to alcohol intake and smoking. Disorders of the IL-12-IL-23/IFN-gamma axis may predispose to cancer.
IL-12-IL-23/IFN-γ 通路的遗传缺陷导致分枝杆菌和沙门氏菌的孟德尔易感性。IL-12/IFN-γ 轴对于小鼠的抗肿瘤免疫至关重要。到目前为止，尚未在这些患者中发现癌症易感性。我们报告了 3 例 IL-12Rβ1 缺陷的亲属。其中一位 25 岁的患者出现食管鳞状细胞癌（OSCC）。该患者无 OSCC 的既往危险因素。他在 29 岁时死亡。30 岁以下人群中 OSCC 极为罕见，常与饮酒和吸烟有关。IL-12-IL-23/IFN-γ 通路的紊乱可能导致癌症易感性。
