<i>IL12RB1</i> Deficiency Appearing in North America: Expanding the Clinical Phenotypes
Chen Wang, Beatriz E. Marciano, Annalie J Harris, Alicia Johnston, Evşen Apaydın Arıkan, Diana K. Bayer, Benjamin D. Solomon, Nathan B Price, et al. (28 authors)
Clinical Infectious Diseases · 2025-11
Abstract
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated Bacillus Calmette-Guérin (BCG) infection. In North America, however, where BCG is not used, it manifests with other bacterial or fungal infections, highlighting distinct, sometimes unrecognized, presentations of IL-12Rβ1 deficiency in this geographic area.
MeSH terms
- Medicine
- Phenotype
- Mendelian inheritance
- Disease
- Clinical phenotype
- Genetics
- Immunology
- Bacillus (shape)
- Genetic predisposition