Defects of intrinsic and innate immunity
Gene: RORC
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to mycobacterial disease
Publications
Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. Three unrelated families reported.Created: 15 Oct 2022, 7:53 a.m. | Last Modified: 15 Oct 2022, 7:53 a.m.
Panel Version: 0.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 42, MIM# 616622
Publications
Gene: rorc has been classified as Green List (High Evidence).
Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622
Publications for gene: RORC were set to
Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: RORC was added gene: RORC was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RORC was set to Unknown