Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
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.
Ferrari S, et al. Among authors: soresina ar.
Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9. doi: 10.1073/pnas.221456898.
Proc Natl Acad Sci U S A. 2001.
PMID: 11675497
Free PMC article.