A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta1 (IL-12/IL-23Rbeta1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rbeta1 defect.
- Type-1 cytokine pathway
- Nontuberculous mycobacteria
- Interleukin-12/23 receptor beta 1 deficiency
- IL-12R-BETA-1 DEFICIENCY