title: The clinical features and genetic mutations of chronic granulomatous disease: results from a reference centre at middle Anatolia.
abstract: OBJECTIVE
  Chronic granulomatous disease (CGD) is a rare innate immune deficiency with neutrophil function disorder. In this retrospective study, we aimed to evaluate the clinical features of the patients with CGD.
  
  
  METHODS
  We presented eight patients (6 boys, 2 girls) with CGD which were evaluated at Erciyes University Medical Faculty hospital between 1996 and 2012. The initial complaints, age at diagnosis, consanguinity of the parents, similar disease history or death of the siblings, physical examination, diagnostic tests, clinical courses, and genetic characteristics were analyzed.
  
  
  RESULTS
  The initial complaints were started before the age of one in four patients; whereas only two patients diagnosed before the first birth day. Lymphadenomegally, suppurative infections, pneumonia, diarrhea were the most noted initial complaints. All parents were consanguineous. The clinical features were mild; and the ages of diagnosis were late in patients with p47 and p67 defect. The patient with X linked CGD was diagnosed when he was 3 months old; his clinical course was complicated with chronic otitis media, zygomatic abscess, lung abscess, and facial paralysis. The patient with p22 defect was diagnosed at two months of age; and gastric wall granuloma, inflammation in proximal femur was detected.
  
  
  CONCLUSIONS
  The awareness of the clinicians about CGD will result in early diagnosis and consequently reduce the mortality and morbidity of this disease.
authors: Erciyes University,Medical Faculty, Department of Pediatrics, Division of Pediatric Immunology, Kayseri, Turkey.
authors: T
authors: T
authors: Patiroglu
authors: Erciyes University,Medical Faculty, Department of Pediatrics, Division of Pediatric Immunology, Kayseri, Turkey.
authors: H Eke
authors: HE
authors: Gungor
authors: Erciyes University, Medical Faculty, Department of Pediatrics, Division of Pediatric Hematology Oncology, Kayseri, Turkey.
authors: E
authors: E
authors: Unal
authors: Erciyes University, Medical Faculty, Department of Immunology and GenKök Laboratory of Immunology, Kayseri, Turkey.
authors: Y
authors: Y
authors: Koker
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D017668:Age of Onset; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D000935:Antifungal Agents / Q000627:therapeutic use; D001424:Bacterial Infections / Q000150:complications / Q000188:drug therapy; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D005808:Genes, Recessive / Q000235:genetics; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D009181:Mycoses / Q000150:complications / Q000188:drug therapy; D019255:NADPH Oxidases / Q000235:genetics; D010808:Physical Examination / Q000379:methods; D011014:Pneumonia / Q000150:complications; D012189:Retrospective Studies; D017421:Sequence Analysis / Q000379:methods; D014421:Turkey
chemical_list: D000900:Anti-Bacterial Agents; D000935:Antifungal Agents; D019255:NADPH Oxidases; C527764:NCF2 protein, human; C060505:neutrophil cytosolic factor 1