The Genetic Heterogeneity of Common Variable Immunodeficiency (CVID): An Update
Vasssilios Lougaris*, Giacomo Tampella, Manuela Baronio, Massimiliano Vitali and Alessandro Plebani
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy
- *Corresponding Author:
- Vassilios Lougaris
Pediatrics Clinic and Institute of Molecular Medicine “A. Nocivelli”
University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy
E-mail: [email protected]
Received date: February 19, 2014; Accepted date: March 24, 2014; Published date: March 28, 2014
Citation: Lougaris V, Tampella G, Baronio M, Vitali M, Plebani A (2014) The Genetic Heterogeneity of Common Variable Immunodeficiency (CVID): An Update. J Vaccines Vaccin 5:223. doi:10.4172/2157-7560.1000223
Copyright: © 2014 Lougaris V et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
B cells are generated in the bone marrow and then enter the periphery, where the maturation process takes place leading to the formation of an effective humoral immune response. Defects in this highly regulated process in the periphery have been considered to be responsible for the pathogenesis of Common Variable Immunodeficiency (CVID) for more than 6 decades. CVID is traditionally characterized by low immunoglobulin serum levels and defective antibody response in the presence of normal peripheral B cell numbers. The clinical spectrum of CVID is highly variable, including recurrent infections, autoimmune complications and increased susceptibility to cancer and lymphomas. However, only in the last decade, the genetic defects underlying this maturational B cell defect have been partially elucidated in a small percentage of affected patients. This review will focus on the current state of art regarding the known genetic alterations associated with the pathogenesis of CVID.