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immunodeficiency with hyper IgM type 3
Summary
- Synonym
-
- CD40 deficiency
- HIGM3
- hyper-IgM syndrome due to CD40 deficiency
- type 3 hyper-IgM immunodeficiency
- 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.
- Super Class
- autosomal recessive disease hyper IgM syndrome
External Links
- Disease Ontology
- DOID:0060023
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06734 | Low affinity immunoglobulin epsilon Fc receptor | |
| P22897 | Macrophage mannose receptor 1 | |
| P36222 | Chitinase-3-like protein 1 |
