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 ...