CD40 deficiency

Defects in TNFRSF5 are the cause of type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, one of the final differentiation steps in the humoral immune system, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.

Alternative names

Hyper-IgM syndrome type 3, HIGM3

Tumor necrosis factor receptor superfamily member 5 (CD40)


  • Combined B and T cell immunodeficiencies
    • Hyper-IgM syndrome


Autosomal recessive


#606843 Immunodeficiency with hyper-IgM, type 3

*109535 Tumor necrosis factor receptor superfamily, member 5; TNFRSF5


1/2,000,000 births/year