Search Ontology:
Human Disease
immunodeficiency with hyper IgM type 3
- Term ID
- DOID:0060023
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/11675497
- References
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- GARD:10579
- MIM:606843
- NCI:C176416
- ORDO:101090
- UMLS_CUI:C1720957
- Ontology
- Human Disease ( DOID:0060023 )
- is a type of
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Genes Involved
Zebrafish Models