Term Name: | combined cellular and humoral immune defects with granulomas |
---|---|
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 |
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. |
Ontology: | Human Disease [DOID:0112253] ( DOID:0112253 ) |