| Metadata | |
|---|---|
| ID | DOID:0060023 |
| Name | immunodeficiency with hyper IgM type 3 |
| Definition | A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. https://www.ncbi.nlm.nih.gov/pubmed/11675497 |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C1720957 exactMatch GARD:10579 exactMatch NCI:C176416 exactMatch ORDO:101090 exactMatch MIM:606843 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CD40 deficiency [EXACT] HIGM3 [EXACT] hyper-IgM syndrome due to CD40 deficiency [EXACT] type 3 hyper-IgM immunodeficiency [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a hyper IgM syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |