title: [Phenotypic diagnosis of primary immunodeficiencies in Antioquia, Colombia, 1994-2002].
abstract: Recurrent infections are a frequent cause of medical visits. They can be due to a heterogeneous group of dysfunctions that increase the susceptibility to pathogenic and opportunistic microorganisms, such as immunological deficiencies. To define an opportune rational treatment and to guide the molecular diagnosis of primary immunodeficiency diseases, we establish a program for the phenotypic diagnosis of these illnesses in Antioquia, Colombia, including clinical and laboratory evaluations of patients who present recurrent infections with abnormal evolution. Between August 1, 1994 and July 31, 2002, phenotypic diagnosis of primary immunodeficiency was made in 98 patients. Similar to data reported in the literature, antibody deficiencies were the most frequent (40.8%), followed by combined deficiencies (21.4%). This phenotypic characterization has allowed for appropriate treatments for each patient and, in some cases, functional and molecular studies that can lead to a definite molecular diagnosis.
authors.affiliation: Grupo de Inmunodeficiencias Primarias, Corporación Biogénesis, Universidad de Antioquia, Medellín, Colombia. cjmonto@catios.udea.edu.co
authors.forename: Carlos Julio
authors.initials: CJ
authors.lastname: Montoya
authors.forename: Julieta
authors.initials: J
authors.lastname: Henao
authors.forename: Helí
authors.initials: H
authors.lastname: Salgado
authors.forename: María M
authors.initials: MM
authors.lastname: Olivares
authors.forename: Juan A
authors.initials: JA
authors.lastname: López
authors.forename: Claudia
authors.initials: C
authors.lastname: Rugeles
authors.forename: José Luis
authors.initials: JL
authors.lastname: Franco
authors.forename: Julio
authors.initials: J
authors.lastname: Orrego
authors.forename: Diana M
authors.initials: DM
authors.lastname: García
authors.forename: Pablo J
authors.initials: PJ
authors.lastname: Patiño
mesh_terms: D000906:Antibodies / Q000032:analysis; D003105:Colombia / Q000453:epidemiology; D005260:Female; D006801:Humans; D007116:Immunization, Passive; D016867:Immunocompromised Host; D007136:Immunoglobulins / Q000032:analysis / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology; D008297:Male; D010641:Phenotype
chemical_list: D000906:Antibodies; D007136:Immunoglobulins