Version: 8.0.0Date: Tue Jan 28 2025
Disease
Source: DOID:0112253
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.
Synonyms: combined immunodeficiency due to RAG 1/2 deficiency...CID due to RAG 1/2 deficiency