Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency with hyper IgM type 3
DOID:0060023
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency with hyper IgM type 3

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.
Synonyms
  • CD40 deficiency
  • HIGM3
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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