immunodeficiency 42 (DOID:0111940)
Alliance: disease page
Synonyms: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; autosomal recessive MSMD due to complete RORgamma receptor defiency; autosomal recessive primary immunodeficiency due to RORC mutation; IMD42
Alt IDs: OMIM:616622, ORDO:477857
Definition: A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.