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GTR Home > Conditions/Phenotypes > Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Synonyms
Immunodeficiency 42
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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 (summary by Okada et al., 2015). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD42, NR1F3, RORG, RZR-GAMMA, RZRG, TOR, RORC
    Summary: RAR related orphan receptor C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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