| Metadata | |
|---|---|
| ID | DOID:0112253 |
| Name | combined cellular and humoral immune defects with 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CCHIDG [EXACT] CID due to RAG 1/2 deficiency [EXACT] combined immunodeficiency due to RAG 1/2 deficiency [EXACT] combined immunodeficiency with granulomatosis [EXACT] combined immunodeficiency with skin granulomas [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Granuloma has material basis in some autosomal recessive inheritance |