title: The many faces of the clinical picture of common variable immune deficiency.
abstract: OBJECTIVE
  To summarize the recent advancements in common variable immune deficiency (CVID), specifically CVID genetics, clinical discoveries and treatment implications.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Immunology Institute, Mt. Sinai School of Medicine, New York, New York, USA.
authors.forename: Elena S
authors.initials: ES
authors.lastname: Resnick
authors.forename: Charlotte
authors.initials: C
authors.lastname: Cunningham-Rundles
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D017074:Common Variable Immunodeficiency / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male
chemical_list: D016756:Immunoglobulins, Intravenous