OBO ID: DOID:0060023
Term Name: immunodeficiency with hyper IgM type 3 Search Ontology:
Synonyms:
  • CD40 deficiency
  • 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:
Ontology: Human Disease   (DOID:0060023)
OTHER immunodeficiency with hyper IgM type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD40 Immunodeficiency with hyper-IgM, type 3 606843
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None