Journal Article

Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor β1 Deficiency

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

in Clinical Infectious Diseases

Published on behalf of Infectious Diseases Society of America

Volume 37, issue 2, pages 302-306
Published in print July 2003 | ISSN: 1058-4838
Published online July 2003 | e-ISSN: 1537-6591 | DOI: http://dx.doi.org/10.1086/375587
Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor β1 Deficiency

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We describe 3 siblings with interleukin-12 receptor β1 (IL-12Rβ1) 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-12Rβ1 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.

Journal Article.  3033 words.  Illustrated.

Subjects: Infectious Diseases ; Immunology ; Public Health and Epidemiology ; Microbiology

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