Terminology Service for NFDI4Health

immunodeficiency with hyper IgM type 3

Go to external page http://purl.obolibrary.org/obo/DOID_0060023


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

immunodeficiency with hyper IgM type 3

Synonyms
  • CD40 deficiency
  • hyper-IgM syndrome due to CD40 deficiency
  • type 3 hyper-IgM immunodeficiency
database cross reference
has obo namespace

disease_ontology

id

DOID:0060023