A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease.
Frederik StaelsFlaminia LorenzettiKerstin De KeukeleereMathijs WillemsenMargaux GerbauxJulika NeumannThomas TousseynEmanuela PasciutoPaul De MunterXavier BossuytRik GijsbersAdrian ListonStephanie Humblet-BaronRik SchrijversPublished in: Journal of clinical immunology (2022)
We demonstrate that impaired IL-23 immunity caused by a homozygous R381X mutation in IL23R underlies MSMD, corroborating earlier findings with a homozygous p.C115Y IL23R mutation. Our report further supports a model of redundant contribution of IL-23- to IL-17-mediated anti-fungal immunity.1.
Keyphrases