Unit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico.
Pediatrics. 2010 Oct;126(4):e971-6. doi: 10.1542/peds.2009-2504. Epub 2010 Sep 20.
Patients with interleukin 12 (IL-12)p40 or IL-12 receptor β1 (IL12Rβ1) deficiencies are prone to develop infections caused by mycobacteria and salmonella; other infections have only been rarely observed. In this report we describe 2 unrelated patients with complete autosomal recessive IL12Rβ1 deficiency who suffered from sepsis attributable to Klebsiella pneumoniae. A Mexican boy suffered from disseminated bacille Calmette-Guérin disease and infections caused by K pneumoniae and Candida albicans and had a fatal outcome. A Turkish girl living in France suffered from disseminated Nocardia nova infection and K pneumoniae sepsis. Therefore, Klebsiella infections should be considered in patients with IL12Rβ1 deficiency. Conversely, IL12Rβ1 deficiency should be considered in patients with unexplained klebsiellosis.
白细胞介素 12(IL-12)p40 或 IL-12 受体β1(IL12Rβ1)缺陷的患者易发生分枝杆菌和沙门氏菌引起的感染;其他感染则很少见。在本报告中,我们描述了 2 例无关的完全常染色体隐性 IL12Rβ1 缺陷患者,他们患有肺炎克雷伯菌引起的败血症。一名墨西哥男孩患有卡介苗和白念珠菌引起的播散性卡介苗病和感染,最终死亡。一名居住在法国的土耳其女孩患有新型奴卡菌感染和肺炎克雷伯菌败血症。因此,应考虑 IL12Rβ1 缺陷患者发生肺炎克雷伯菌感染。相反,对于原因不明的克雷伯菌感染,应考虑 IL12Rβ1 缺陷。