| Metadata | |
|---|---|
| ID | DOID:0060758 |
| Name | immunodeficiency with hyper-IgM type 2 |
| Definition | A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. https://www.ncbi.nlm.nih.gov/pubmed/11007475 |
| Xrefs | |
| SKOS |
exactMatch GARD:10578 exactMatch ORDO:101089 exactMatch MIM:605258 exactMatch UMLS_CUI:C1720956 exactMatch NCI:C129074 broadMatch ORDO:183666 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
activation-induced cytidine deaminase deficiency [EXACT] AID deficiency [EXACT] HIGM2 [EXACT] hyper-IgM syndrome type 2 [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a hyper IgM syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |