Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor 1 Deficiency

作者：Isabel Caragol, Miquel Raspall‐Chaure, Claire Fieschi, J. Feinberg, Nieves Larrosa, M. Hernández, Concepció Figueras, J. M. Bertran, Jean‐Laurent Casanova, Teresa Español · 发表于：Clinical Infectious Diseases · 年份：2003 · DOI：10.1086/375587 · 被引用次数：119 · 研究领域：Immunodeficiency and Autoimmune Disorders、Tuberculosis Research and Epidemiology、Mycobacterium research and diagnosis

We describe 3 siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency, a known genetic etiology of clinical disease caused by infection with poorly virulent mycobacteria, such as mycobacteria found in bacille Calmette-Guérin (BCG) vaccines and environmental nontuberculous mycobacteria (NTM). One child had disseminated tuberculosis, the second had extraintestinal salmonellosis and pulmonary tuberculosis, and the third remained asymptomatic. IL-12Rbeta1 deficiency should be considered as a diagnosis in patients with severe salmonellosis or tuberculosis, even if they do not have disease due to BCG or NTM.