immunodeficiency 42

Term ID

DOID:0111940

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. https://pubmed.ncbi.nlm.nih.gov/26160376/

References

• OMIM:616622
• ORDO:477857

Ontology

Human Disease   ( DOID:0111940 )