Korean J Pediatr.  2015 Apr;58(4):129-135. 10.3345/kjp.2015.58.4.129.

Long-term outcome of patients with p22phox-deficient chronic granulomatous disease on Jeju Island, Korea

Affiliations
  • 1Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea. kyungsue@jejunu.ac.kr

Abstract

PURPOSE
This study investigated the long-term clinical outcomes of patients with p22(phox)-deficient chronic granulomatous disease (CGD) on Jeju Island and retrospectively evaluated the effects of interferon-gamma (IFN-gamma) prophylaxis.
METHODS
The medical records of 15 patients with CGD were retrospectively reviewed. The efficacy of IFN-gamma prophylaxis was evaluated by comparing the frequency of severe infections before and after starting continuous prophylaxis with IFN-gamma.
RESULTS
At the time of the analysis, 14 patients were alive, with a median age of 14.3 years. The diagnosis of CGD was made at a median age of 2.4 years, and the median age at onset of severe infection was 0.3 years. Thirteen of the 15 patients had their first severe infection within the first year of life. The overall incidence of severe infection was 1.36 infections per patient-year; pneumonia, suppurative lymphadenitis, and skin and subcutaneous abscesses were the most common infections. Aspergillus species were the most frequently isolated microorganisms, present in 15.8% of isolates. IFN-gamma did not significantly change the rate of severe infection. The survival rate for patients after 2 years of age was 93%; there was a prolonged survival plateau beyond the age of 2.
CONCLUSION
Compared with cases of X-linked CGD reported in other studies, patients with CGD on Jeju Island did not show obviously different clinical manifestations, but they had a significantly higher survival rate. Further studies with a substantially longer period of observation, and with more patients under intensive surveillance are necessary to elucidate the prophylactic efficiency of IFN-gamma.

Keyword

Chronic granulomatous disease; Interferon-gamma; Human CYBA protein

MeSH Terms

Abscess
Aspergillus
Diagnosis
Granulomatous Disease, Chronic*
Humans
Incidence
Interferon-gamma
Korea
Lymphadenitis
Medical Records
Pneumonia
Retrospective Studies
Skin
Survival Rate
Interferon-gamma
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