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Case Reports
. 2003 Jul 15;37(2):302-6.
doi: 10.1086/375587. Epub 2003 Jul 7.

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency

Isabel Caragol  1 , Miquel Raspall, Claire Fieschi, Jaqueline Feinberg, María N Larrosa, Manuel Hernández, Concepción Figueras, Jose-María Bertrán, Jean-Laurent Casanova, Teresa Español
Affiliations
Case Reports

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency

Isabel Caragol et al. Clin Infect Dis. .

Abstract

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.

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