Defects of innate immunity
Gene: IL23R
48yo male with disseminated NTM homozygous (p.R381X) with supportive functional data.Created: 21 Jul 2022, 1:45 a.m. | Last Modified: 21 Jul 2022, 1:45 a.m.
Panel Version: 0.114
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to mycobacterial disease
Publications
Single family reported.
Sources: Expert listCreated: 5 Apr 2020, 7:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to mycobacteria and Salmonella
Publications
Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella
Publications for gene: IL23R were set to 30578351
Gene: il23r has been classified as Green List (High Evidence).
Gene: il23r has been classified as Red List (Low Evidence).
gene: IL23R was added gene: IL23R was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL23R were set to 30578351 Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella Review for gene: IL23R was set to RED