combined cellular and humoral immune defects with granulomas (DOID:0112253)
Alliance: disease page
Synonyms: CCHIDG; CID due to RAG 1/2 deficiency; combined immunodeficiency due to RAG 1/2 deficiency; combined immunodeficiency with granulomatosis; combined immunodeficiency with skin granulomas
Alt IDs: OMIM:233650, MESH:C567115, ORDO:157949
Definition: 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.