title: Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease.
abstract: BACKGROUND
  Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran.
  
  
  METHODS
  Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.
  
  
  RESULTS
  Most of the patients were AR-CGD (87.1%). This was related to consanguineous marriages (p = 0.001). The age of onset of symptoms and diagnosis were lower in XL-CGD compared with AR-CGD (p < 0.0001 for both). Among AR-CGD patients, p47phox defect was the predominant subtype (55.5%). The most common clinical features in patients were lymphadenopathy (65.6%) and pulmonary involvement (57%). XL-CGD patients were affected more frequently with severe infectious manifestations.
  
  
  CONCLUSIONS
  Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Children's Medical Center, Tehran University of Medical Sciences, No: 62, Dr. Gharib Street, Keshavarz Blvd, Tehran, 14194, IR, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Fattahi
authors.forename: Mohsen
authors.initials: M
authors.lastname: Badalzadeh
authors.forename: Leyla
authors.initials: L
authors.lastname: Sedighipour
authors.forename: Masoud
authors.initials: M
authors.lastname: Movahedi
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Fazlollahi
authors.forename: Seyed Davood
authors.initials: SD
authors.lastname: Mansouri
authors.forename: Ghamar Taj
authors.initials: GT
authors.lastname: Khotaei
authors.forename: Mohammad Hassan
authors.initials: MH
authors.lastname: Bemanian
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Behmanesh
authors.forename: Amir Ali
authors.initials: AA
authors.lastname: Hamidieh
authors.forename: Nasrin
authors.initials: N
authors.lastname: Bazargan
authors.forename: Setareh
authors.initials: S
authors.lastname: Mamishi
authors.forename: Fariborz
authors.initials: F
authors.lastname: Zandieh
authors.forename: Zahra
authors.initials: Z
authors.lastname: Chavoshzadeh
authors.forename: Iraj
authors.initials: I
authors.lastname: Mohammadzadeh
authors.forename: Seyed Alireza
authors.initials: SA
authors.lastname: Mahdaviani
authors.forename: Seyed Ahmad
authors.initials: SA
authors.lastname: Tabatabaei
authors.forename: Najmeddin
authors.initials: N
authors.lastname: Kalantari
authors.forename: Shaghayegh
authors.initials: S
authors.lastname: Tajik
authors.forename: Marzieh
authors.initials: M
authors.lastname: Maddah
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D050172:Genes, X-Linked / Q000235:genetics; D006105:Granulomatous Disease, Chronic / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007492:Iran; D008206:Lymphatic Diseases; D008297:Male; D008875:Middle Aged; D019255:NADPH Oxidases / Q000235:genetics*; D012141:Respiratory Tract Infections; D012307:Risk Factors
chemical_list: D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1