Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Common variable immunodeficiency (CVID) is the most frequently diagnosed symptomatic primary immunodeficiency. CVID develops as a consequence of absence or malfunction of proteins involved with immunoglobulin production by plasma and memory B-cells. The last decade has brought us clarification of several genetic predispositions to the development of CVID. Despite considerable effort, however, for eighty-five percent of CVID patients, disease etiology remains undefined. We propose that in subsets of patients, CVID may involve defective assembly of protein complexes, which is crucial for example for B cell activation upon antigen triggering of the B cell receptor/co-receptor complex. Such defective protein-protein interactions may not be uncovered by standard gene sequencing methods, and may involve epigenetic or post-transcriptional regulation. In this review, we summarize recent developments in CVID research and propose additional approaches to the clarification of etiology of CVID patient groups, necessary for development of tailored treatment options.

Original publication

DOI

10.1615/critrevimmunol.v31.i2.10

Type

Journal article

Journal

Critical reviews in immunology

Publication Date

01/2011

Volume

31

Pages

85 - 98

Addresses

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands.

Keywords

B-Lymphocytes, Humans, Common Variable Immunodeficiency, Receptors, Antigen, B-Cell, Signal Transduction, Immunologic Memory, Epigenesis, Genetic, Protein Processing, Post-Translational, Mutation, Protein Multimerization