Term Name: immunodeficiency with hyper IgM type 3
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.
Ontology: Human Disease [DOID:0060023]   ( DOID:0060023 )

Relationships
is a type of: autosomal recessive disease hyper IgM syndrome