title: [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.affiliation: Unidad de Investigación en Inmunodeficiencias, Institute Nacional de Pediatría, Meéxico, DF. lbg73_2000@yahoo.com
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Blancas-Galicia
authors.forename: Nadia Gisela
authors.initials: NG
authors.lastname: Ramírez-Vargas
authors.forename: Francisco
authors.initials: F
authors.lastname: Espinosa-Rosales
mesh_terms: D000293:Adolescent; D001327:Autoimmune Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D003937:Diagnosis, Differential; D004198:Disease Susceptibility; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology; D006801:Humans; D007116:Immunization, Passive; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis; D015994:Incidence; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000209:etiology; D008297:Male; D009369:Neoplasms / Q000209:etiology; D010641:Phenotype; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000209:etiology; D055815:Young Adult