Gimenez-Sanchez Francisco, Cobos-Carrascosa Elena, Sanchez-Forte Miguel, Martinez-Lirola Miguel, Lopez-Ruzafa Encarnacion, Galera-Martinez Rafael, Del Rosal Teresa, Martinez-Gallo Monica
From the *Department of Pediatrics, †Department of Microbiology, Hospital Torrecardenas, Almeria; ‡Department of Pediatrics, Hospital infantil La Paz, Madrid; and §Department of Immunology, Hospital Vall d´Hebron, Barcelona, Spain.
Pediatr Infect Dis J. 2014 Mar;33(3):328-30. doi: 10.1097/INF.0000000000000099.
Deficiency in the interleukin12/INFgamma pathway is a genetic condition that predisposes to some infections, including nontuberculous mycobacteria infection and extraintestinal salmonellosis. We report 2 cases in sisters who were diagnosed with a genetic defect caused by a new mutation in Interleukin-12 receptor β1 chain (IL12Rβ1) leading to different clinical presentations and responses to therapy.
白细胞介素12/干扰素γ通路缺陷是一种遗传性疾病，易引发某些感染，包括非结核分枝杆菌感染和肠外沙门氏菌病。我们报告了2例姐妹病例，她们被诊断出因白细胞介素-12受体β1链（IL12Rβ1）的新突变导致的基因缺陷，这导致了不同的临床表现和对治疗的反应。
