Article

Immunologic Research

, Volume 38, Issue 1, pp 78-86

First online:

Common variable immune deficiency: reviews, continued puzzles, and a new registry

  • Charlotte Cunningham-RundlesAffiliated withDepartment of Medicine, Mount Sinai Medical Center, The Mount Sinai School of MedicineDepartment of Pediatrics, Mount Sinai Medical Center, The Mount Sinai School of MedicineThe Immunobiology Center, Mount Sinai Medical Center, The Mount Sinai School of Medicine Email author 
  • , Adina Kay KnightAffiliated withDepartment of Medicine, Mount Sinai Medical Center, The Mount Sinai School of MedicineDepartment of Pediatrics, Mount Sinai Medical Center, The Mount Sinai School of MedicineThe Immunobiology Center, Mount Sinai Medical Center, The Mount Sinai School of Medicine

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Abstract

Background

Common variable immune deficiency (CVID) is a clinically and immunologically heterogenous primary immune deficiency first described more than 50 years ago. The main features are hypogammaglobulinemia, recurrent infections, and other complications. While CVID is considered as a genetic immune defect, and several genes have been reported as leading to the CVID phenotype, one of the most puzzling features of CVID is the sporadic inheritance pattern and the relatively late onset. In most cases, no other family members have any immune defect. The mean age at diagnosis is between 25 and 45 years of age. These features suggest the interplay between either several or numerous genes with or without potential environmental factors.

Keywords

Common variable immune deficiency B cells Genetics Autoimmunity Immune deficiency