Search Ontology:
Human Disease
combined cellular and humoral immune defects with granulomas
- Term ID
- DOID:0112253
- Synonyms
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- 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
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- GARD:13587
- MESH:C567115
- MIM:233650
- ORDO:157949
- Ontology
- Human Disease ( DOID:0112253 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models