Author/Authors :
Potjewijd، نويسنده , , Judith and de Paus، نويسنده , , Roelof A. and van Wengen، نويسنده , , Annelies and Damoiseaux، نويسنده , , Jan and Verbon، نويسنده , , Annelies and de Vosse، نويسنده , , Esther van، نويسنده ,
Abstract :
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.
