title: Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis.
abstract: BACKGROUND
  Chronic granulomatous disease (CGD) is a rare disorder of phagocytic oxidative bursts leading to recurrent pyogenic infections. Affected individuals are most prone to infections caused by staphylococci, Salmonella, Candida, and Aspergillus, but previously we observed a high incidence of Mycobacterium tuberculosis infection in Chinese children with CGD.
  
  
  OBJECTIVE
  To determine the spectrum of infections in patients with X-linked CGD, with an emphasis on mycobacterial infections, and to review all CYBB gene mutations identified in our center.
  
  
  RESULTS
  From 1988 to 2005, 17 Chinese male children were diagnosed to have X-linked CGD. Fifteen mutations were identified, including 3 splice site defects (IVS1-1G>C, 266G>A, IVS3-1G>A), 5 missense mutations (591T>C, 627T>A, 949T>A, 1039T>A, 1512G>C), 3 nonsense mutations (882C>T, 1451C>A, 1569G>T), 1 insertion (756_757insA), and 3 deletions (660_662delTTC, 727delT, 1341delT). Eight of these were novel mutations. Recurrent pneumonia, lymphadenitis, and bacterial skin abscess were the commonest types of infection. Seven patients had tuberculosis (TB). Seven patients had prolonged scarring or abscess formation at the Calmette-Guérin bacillus (BCG) injection site, and 1 had disseminated BCG infection. Three patients had pulmonary aspergillosis. Four patients underwent hemopoietic stem cell transplantation, but 2 died of complications.
  
  
  CONCLUSIONS
  Patients with CGD are susceptible to TB and BCG complications. Our observation suggests that oxidative burst is probably important in host defense against mycobacterial infections. Because interferon-gamma is the key cytokine involved in mycobacterial immunity, there may be a stronger indication for its use in CGD patients living in areas endemic for TB.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, HKSAR, China.
authors.forename: Pamela P W
authors.initials: PP
authors.lastname: Lee
authors.forename: Koon-Wing
authors.initials: KW
authors.lastname: Chan
authors.forename: Liping
authors.initials: L
authors.lastname: Jiang
authors.forename: Tongxin
authors.initials: T
authors.lastname: Chen
authors.forename: Chengrong
authors.initials: C
authors.lastname: Li
authors.forename: Tsz-Leung
authors.initials: TL
authors.lastname: Lee
authors.forename: Priscilla H S
authors.initials: PH
authors.lastname: Mak
authors.forename: Susanna F S
authors.initials: SF
authors.lastname: Fok
authors.forename: Xiqiang
authors.initials: X
authors.lastname: Yang
authors.forename: Yu-Lung
authors.initials: YL
authors.lastname: Lau
mesh_terms: D000038:Abscess / Q000453:epidemiology; D000293:Adolescent; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004198:Disease Susceptibility; D019353:Endemic Diseases; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008199:Lymphadenitis / Q000453:epidemiology; D008297:Male; D009154:Mutation; D009163:Mycobacterium bovis / Q000302:isolation & purification; D009169:Mycobacterium tuberculosis / Q000302:isolation & purification; D011014:Pneumonia / Q000453:epidemiology; D014376:Tuberculosis / Q000453:epidemiology* / Q000235:genetics*