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Updated: Sep 23, 2026

A 3D Human Lung Tissue Model for Functional Studies on Mycobacterium tuberculosis Infection
Published on: October 5, 2015
Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency
Isabel Caragol1, Miquel Raspall, Claire Fieschi
1Immunology Unit, Hospital Vall d'Hebron, Barcelona, Spain. iscaur@hg.vhebron.es
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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