OBO ID: DOID:0112253
Term Name: combined cellular and humoral immune defects with granulomas Search Ontology:
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 RAG1 or RAG2 on chromosome 11p12. https://pubmed.ncbi.nlm.nih.gov/18463379/
References:
Ontology: Human Disease   (DOID:0112253)
OTHER combined cellular and humoral immune defects with granulomas PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAG1 Combined cellular and humoral immune defects with granulomas 233650
RAG2 Combined cellular and humoral immune defects with granulomas 233650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None