Search Ontology:
Human Disease

immunodeficiency with hyper IgM type 3

Term ID
DOID:0060023
Synonyms
  • 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
  • GARD:10579
  • MIM:606843
  • NCI:C176416
  • ORDO:101090
  • UMLS_CUI:C1720957
Ontology
Human Disease   ( DOID:0060023 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models