combined cellular and humoral immune defects with granulomas

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rag2, rag1

Other Model Organisms: AGR, 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)