ID-bases-logo
- databases for immunodeficiency-causing variations

   CD40base
   Variation registry for  CD40 deficiency


CD40base mutation publications

[2003] [2001]

Search PubMed latest citations for CD40 mutations

    2003

  • Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.
    Kutukculer N, Moratto D, Aydinok Y, Lougaris V, Aksoylar S, Plebani A, Genel F, Notarangelo LD
    J Pediatr 2003(2): 194-6 [PubMed abstract].

    2001

  • 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
    Proc Natl Acad Sci U S A 2001(22): 12614-9 [PubMed abstract].