title: [Chronic granulomatous disease: three cases with different presentations].
abstract: BACKGROUND
  Chronic granulomatous disease (CGD) is a rare form of primary immunodeficiency disease, characterized by an abnormal susceptibility to bacterial and fungal infections, and it is caused by a deficit in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex (NADPH), resulting in the inability to generate reactive oxygen species that destroy microorganisms. The diagnosis is based on clinical characteristics and analysis of phagocytes, and later confirmed by molecular studies. Its management should consider antimicrobial prophylaxis, a search for infections and aggressive management of these.
  
  
  OBJECTIVE
  To describe three cases of CGD emphasizing their forms of presentation and to conduct a review of the condition.
  
  
  METHODS
  Three case reports, two of them first cousins, are presented. Molecular diagnosis was reached in one of the cases. Recurrent infections, abscesses, adenitis, granulomas and complications are identified to facilitate the suspected diagnosis of CGD, bearing in mind the importance of early diagnosis and genetic counseling.
  
  
  CONCLUSIONS
  EGC is a rare congenital primary immunodeficiency disorder, mostly with X-linked inheritance, autosomal recessive form, and a specific presentation form. Its diagnosis should be timely to avoid complications. Prophylaxis and aggressive treatment of infections should be performed, as well as genetic counseling.
authors.affiliation: Médico, Programa de Especialista en Inmunología, Facultad de Medicina, Universidad de Chile.
authors.forename: Gonzalo D
authors.initials: GD
authors.lastname: Espinoza
authors.affiliation: Médico, Programa de Especialista en Inmunología, Facultad de Medicina, Universidad de Chile.
authors.forename: Karime B
authors.initials: KB
authors.lastname: Butte
authors.affiliation: Médico, Programa de Especialista en Inmunología, Facultad de Medicina, Universidad de Chile.
authors.forename: Valeria P
authors.initials: VP
authors.lastname: Palma
authors.affiliation: Pediatra Reumatóloga, Unidad Inmunoreumatología, Hospital Exequiel González Cortés, Chile.
authors.forename: Ximena R
authors.initials: XR
authors.lastname: Norambuena
authors.affiliation: Pediatra Inmunólogo Clínico, Departamento Pediatría Sur, Facultad de Medicina Universidad de Chile. Electronic address: aquezada@med.uchile.cl.
authors.forename: Arnoldo L
authors.initials: AL
authors.lastname: Quezada
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D005817:Genetic Counseling / Q000379:methods; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D010586:Phagocytes / Q000378:metabolism*
keywords: Abscesos; Abscesses; Adenitis; Chronic Granulomatous Disease; Granulomas; Immunodeficiency; Recurrent Infections; adenitis; enfermedad granulomatosa crónica; granulomas; infecciones recurrentes; inmunodeficiencias