Perspectives on common variable immune deficiency
- 1 December 2011
- journal article
- review article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 1246 (1), 41-49
- https://doi.org/10.1111/j.1749-6632.2011.06338.x
Abstract
Common variable immunodeficiency (CVID) is considered to be a collection of genetic immune defects with complex inheritance patterns. While the main phenotype is loss of B cell function, the majority of the genetic mechanisms leading to CVID remain elusive. In the past two decades there have been increasing efforts to unravel the genetic defects in CVID. Here, we provide an overview of our current understanding of the genetic basis of these defects, as revealed over time by earlier linkage studies in large cohorts, analysis of families with recessive inheritance, targeted gene approaches, and genome‐wide association studies using single nucleotide polymorphism arrays and copy number variation, and whole genome studies.Keywords
This publication has 85 references indexed in Scilit:
- Genome-wide association identifies diverse causes of common variable immunodeficiencyJournal of Allergy and Clinical Immunology, 2011
- Origin of Chromosomal Translocations in Lymphoid CancerCell, 2010
- CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiencyJCI Insight, 2010
- Primary immunodeficiencies: 2009 updateJournal of Allergy and Clinical Immunology, 2009
- B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humansProceedings of the National Academy of Sciences of the United States of America, 2009
- Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditionsBritish Journal of Haematology, 2009
- Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotesJournal of Allergy and Clinical Immunology, 2007
- Role for Msh5 in the regulation of Ig class switch recombinationProceedings of the National Academy of Sciences of the United States of America, 2007
- Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiencyNature Genetics, 2007
- DCs induce CD40-independent immunoglobulin class switching through BLyS and APRILNature Immunology, 2002