[Common variable immunodeficiency. A clinical approach]

Rev Invest Clin. 2010 Nov-Dec;62(6):577-82.
[Article in Spanish]

Abstract

Common variable immunodeficiency (CVID) is an immunodeficiency characterized by an impaired ability to produce antibodies associated to multiple clinical phenotypes. The incidence is around 1/50,000 new borns. The age at diagnosis shows 2 peaks, between 1-5 and 16-20 years old. The failure is localized in partially mature B lymphocytes, affects antibody synthesis and class switch from IgM to IgG. Only in 10% of cases, a mutation has been detected, in the others, the genetic defect is unknown. The clinical manifestations are severe and recurrent infections, autoimmunity, gastrointestinal manifestations, lymphoid hyperplasia and a high risk to develop cancer. The most common clinical presentation consists in recurrent sinus-bronchial infections. Hemolytic anemia and thrombocytopenia are frequent autoimmune disorders. Diagnosis must be suspected in a patient with sinus-bronchial infections associated to the different clinical syndrome above described, also significant reduction of immunoglobulin G, reduction of immunoglobulin A or immunoglobulin M. The differential diagnosis of CVID is largely based on the exclusion of other antibody immune deficiencies. Mutation on TACI, ICOS, CD19, BAFF-R, MSH5 must be ruled out for molecular diagnosis. Immunoglobulin replacement therapy diminishes the risk of developing pulmonary complications.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adolescent
  • Autoimmune Diseases / etiology
  • Child
  • Child, Preschool
  • Common Variable Immunodeficiency* / complications
  • Common Variable Immunodeficiency* / diagnosis
  • Common Variable Immunodeficiency* / epidemiology
  • Common Variable Immunodeficiency* / genetics
  • Common Variable Immunodeficiency* / therapy
  • Diagnosis, Differential
  • Disease Susceptibility
  • Female
  • Gastrointestinal Diseases / etiology
  • Humans
  • Immunization, Passive
  • Immunologic Deficiency Syndromes / diagnosis
  • Incidence
  • Infant
  • Lymphoproliferative Disorders / etiology
  • Male
  • Neoplasms / etiology
  • Phenotype
  • Recurrence
  • Respiratory Tract Infections / etiology
  • Young Adult