[Common variable immunodeficiency. A clinical approach].

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.

• Authors: Lizbeth Blancas-Galicia, Nadia Gisela Ramírez-Vargas, Francisco Espinosa-Rosales
• Journal: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion (Rev Invest Clin) 2010 Nov-Dec Vol. 62 Issue 6 Pg. 577-82 ISSN: 0034-8376 [Print] Mexico
• Vernacular Title: Inmunodeficiencia común variable. Un enfoque clínico.
• PMID: 21416917 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Adolescent
• Autoimmune Diseases (etiology)
• Child
• Child, Preschool
• Common Variable Immunodeficiency (complications, diagnosis, epidemiology, genetics, 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