RORC function has not been fully characterized.

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is associated with mutations in the RORC gene on chromosome 1.

Genetic testing for RORC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency has been reported in the published literature.

Phenotype severity distribution: 1 very common feature, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency.

2 publications have been identified in PubMed for autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency. Research spans Diagnostic / Biomarker (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Ogishi M (2025). [PMID: 40446017](https://pubmed.ncbi.nlm.nih.gov/40446017/). *Sci Immunol*. [Basic Science / Preclinical]

• Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]