Article
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
Proceedings of the National Academy of Sciences of the United States of America - 23 Oct 2001
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina A R, Loubser M, Avanzini M A, Marconi M, Badolato R, Ugazio A G, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo L D, Plebani A
Abstract excerpt
CD40 is a member of the tumor necrosis factor receptor superfamily, expressed on a wide range of cell types including B cells, macrophages, and dendritic cells. CD40 is the receptor for CD40 ligand (CD40L), a molecule predominantly expressed by activated CD4(+) T cells. CD40/CD40L interaction induces the formation of memory B lymphocytes and promotes Ig isotype switching, as demonstrated in mice knocked-out for...
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