Printable factfile
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)
Classification
- Combined B and T cell immunodeficiencies
- Hyper-IgM syndrome
Inheritance
Autosomal recessive
Cross references
Genetically related immunodeficiencies
IDR factfile for non - X-linked hyper-IgM syndrome
IDR factfile forX-linked hyper-IgM syndrome (CD40L deficiency)
IDR factfile for X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia
Incidence
1/2,000,000 births/year