Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients

Author:

Al-Saud Bandar K.,Al-Sum Zobaida,Alassiri Hanadi,Al-Ghonaium Abdulaziz,Al-Muhsen Saleh,Al-Dhekri Hasan,Arnaout Rand,Alsmadi Osama,Borrero Esteban,Abu-Staiteh Asm’a,Rawas Faisal,Al-Mousa Hamoud,Hawwari Abbas

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference28 articles.

1. Burtin P. An example of atypical agammaglobulinemia, a case of severe hypogammaglobulinemia with increase of the beta-2 macroglobulin. Rev Fr Etud Clin Biol. 1961;6:286–9.

2. Rosen F, Kevy SV, Merler E, Janeway CA, Gitlin D. Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases. Pediatrics. 1961;28:182–95.

3. Conley ME, Larche M, Bonagura VR, Lawton 3rd AR, Buckley RH, Fu SM, et al. Hyper-IgM syndrome associated with defective CD40-mediated B cell activation. J Clin Invest. 1994;94:1404–9.

4. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina A, Loubser M, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper-IgM. PNAS. 2001;98:12614–9.

5. Aruffo A, Farrington M, Hollenbaugh D, Li X, Millatovich A, Nonovama A, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell. 1993;72:291–300.

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