Disease-gene associations mined from literature

Human genes for immunodeficiency with hyper IgM type 3

Immunodeficiency with hyper IgM type 3 [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.

Synonyms:  immunodeficiency with hyper IgM type 3,  DOID:0060023,  CD40 deficiency,  hyper-IgM syndrome due to CD40 deficiency,  type 3 hyper-IgM immunodeficiency ...