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The many faces of the clinical picture of common variable immune deficiency

Resnick, Elena S.; Cunningham-Rundles, Charlotte

Current Opinion in Allergy and Clinical Immunology: December 2012 - Volume 12 - Issue 6 - p 595–601
doi: 10.1097/ACI.0b013e32835914b9
PRIMARY IMMUNE DEFICIENCY DISEASE: Edited by Amos Etzioni and Ramsey L. Fuleihan

Purpose of review To summarize the recent advancements in common variable immune deficiency (CVID), specifically CVID genetics, clinical discoveries and treatment implications.

Recent findings Large genomic studies have implicated new genes in the pathogenesis of CVID, and basic science studies have contributed to our knowledge of potential mechanisms. Cohort studies have further defined the immunologic parameters and clinical presentation of CVID, as well as the factors that contribute to morbidity and mortality in this disease. Immunoglobulin remains the mainstay of treatment, although there may be a role for immunosuppression and other therapies.

Summary CVID is a genotypically and phenotypically heterogeneous primary immune deficiency, the genetic and clinical characteristics of which are under active investigation. Further, discovery may yield important new treatment protocols that can continue to reduce the morbidity and mortality from this disease.

Immunology Institute, Mt. Sinai School of Medicine, New York, New York, USA

Correspondence to Charlotte Cunningham-Rundles, MD, PhD, 1425 Madison Ave Room 11-20, New York, NY 10029, USA. Tel: +1 212 659 9261; e-mail: charlotte.cunningham-rundles@mssm.edu

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.