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Summary Literature (0)
DOID:0112253 - combined cellular and humoral immune defects with granulomas

Disease Ontology 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: 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

Xenbase Genes : rag2, rag1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined immunodeficiency (is_a)