The authors have declared that no conflict of interest exists.
Molecular analysis for patients with IL-12 receptor β1 deficiency
Article first published online: 11 SEP 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
How to Cite
Molecular analysis for patients with IL-12 receptor β1 deficiency., , , , , , , , .
- Article first published online: 11 SEP 2013
- Accepted manuscript online: 16 AUG 2013 12:11PM EST
- Manuscript Revised: 13 AUG 2013
- Manuscript Received: 1 JUL 2013
- Manuscript Accepted: 20 MAY 2013
- Instituto de Ciencia y Tecnología del Distrito Federal (ICyTDF). Grant Number: PICSA12-157
- Consejo Nacional de Ciencia y Tecnología (CONACyT). Grant Number: 153733
- interleukin-12 receptor β1;
- mycobacterial disease;
- systemic lupus erythematosus
Autosomal recessive interleukin-12 receptor β1 (IL-12Rβ1) deficiency has been described as the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD), characterized by clinical disease due to weakly virulent mycobacteria such as Bacille Calmette–Guérin (BCG) vaccines and environmental mycobacteria (EM) in children who are normally resistant to most infectious agents. Here, we report the cases of five patients with mycobacterial infection, including one with systemic lupus erythematosus (SLE). Blood samples from patients and healthy controls were activated in vitro with BCG, BCG+IL-12, and BCG+IFN-γ. The results showed reduced or no production of IFN-γ after IL-12 stimulation in all samples. IL-12Rβ1 expression on the cell surface was negligible or absent. Genetic analysis showed five novel mutations.