RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
combined cellular and humoral immune defects with granulomas
A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)
Synonyms:
exact_synonym:
CCHIDG; CID due to RAG 1/2 deficiency; COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS; combined immunodeficiency due to RAG 1/2 deficiency; combined immunodeficiency with granulomatosis