Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.

► We report a novel IL-12/IL-23Rβ1 mutation, r.1561C>G.
► It is only the second patient with a partial IL-12/IL-23Rβ1 defect.
► The patient present with a late onset disseminated nontuberculous mycobacterium infection.