Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

Proc Natl Acad Sci U S A 98:12614-9 (2001)
DOI:10.1073/pnas.221456898