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

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)....

Full description

Saved in:
Bibliographic Details
Published in:Clinical infectious diseases 2003-07, Vol.37 (2), p.302-306
Main Authors: Caragol, Isabel, Raspall, Miquel, Fieschi, Claire, Feinberg, Jaqueline, Larrosa, María N., Hernández, Manuel, Figueras, Concepción, Bertrán, Jose-María, Casanova, Jean-Laurent, Español, Teresa
Format: Article
Language:English
Subjects:
Bacterial diseases
Biological and medical sciences
Brief Reports
Human bacterial diseases
Infections
Infectious diseases
Medical sciences
Mycobacterium tuberculosis
Pulmonary tuberculosis
Receptors
Salmonella infections
Siblings
T lymphocytes
Tuberculosis
Tuberculosis and atypical mycobacterial infections
Tuberculosis vaccine
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1058-4838
1537-6591
DOI:10.1086/375587