Term Name: | immunodeficiency 42 |
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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 |
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. |
Ontology: | Human Disease [DOID:0111940] ( DOID:0111940 ) |