| Metadata | |
|---|---|
| ID | DOID:0060760 |
| Name | immunodeficiency with hyper-IgM type 4 |
| Definition | A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. https://www.ncbi.nlm.nih.gov/pubmed/12840068 |
| Xrefs | |
| SKOS |
exactMatch GARD:10580 exactMatch MESH:C564277 exactMatch MIM:608184 exactMatch NCI:C564277 exactMatch ORDO:101091 exactMatch UMLS_CUI:C1842413 broadMatch ORDO:183666 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
HIGM4 [EXACT] hyper-IgM syndrome type 4 [EXACT] |
| Parent Relationships |
is_a hyper IgM syndrome |