Filiz Serkan, Kocacik Uygun Dilara F, Verhard Els M, van Dissel Jaap T, Uygun Vedat, Bassorgun Cumhur, Bingol Aysen, Yegin Olcay, van de Vosse Esther
Department of Pediatric Allergy and Immunology, Akdeniz University School of Medicine, Antalya, TurkeyDepartment of Pediatric Hematology, Akdeniz University School of Medicine, Antalya, TurkeyDepartment of Pathology, Akdeniz University School of Medicine, Antalya, TurkeyDepartment of Infectious Diseases, Leiden University Medical Center, Leiden, The Netherlands.
Pediatr Dermatol. 2014 Mar-Apr;31(2):236-40. doi: 10.1111/j.1525-1470.2012.01856.x. Epub 2012 Sep 25.
Defects in the interleukin 12 (IL-12)/interferon gamma (IFN-γ) pathway result in Mendelian susceptibility to mycobacterial disease (MSMD). IL-12 receptor beta 1 (IL-12Rβ1) deficiency, the most common form of MSMD, is associated with weakly virulent mycobacteria and salmonella. Infections in patients with this deficiency are extraintestinal, or septicemic, recurrent infections with nontyphoid salmonellae. Here we report a case of an IL-12Rβ1 deficiency with cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis.
白细胞介素12(IL-12)/干扰素γ(IFN-γ)信号通路缺陷会导致孟德尔遗传型分枝杆菌病易感性(MSMD)。IL-12受体β1(IL-12Rβ1)缺陷是MSMD最常见的形式,与弱毒力分枝杆菌和沙门氏菌有关。这种缺陷患者的感染为非伤寒沙门氏菌引起的肠外感染或败血症性反复感染。在此,我们报告一例因肠炎沙门氏菌导致的伴有皮肤白细胞破碎性血管炎的IL-12Rβ1缺陷病例。