Search Ontology:
Human Disease

combined cellular and humoral immune defects with granulomas

Term ID
DOID:0112253
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. https://pubmed.ncbi.nlm.nih.gov/18463379/
References
Ontology
Human Disease   ( DOID:0112253 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models