Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study

Clin Immunol. 2008 Feb;126(2):155-64. doi: 10.1016/j.clim.2007.09.008. Epub 2007 Nov 26.

Abstract

A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out. The mean age at the time of diagnosis was 4.4 years; mean duration of follow-up was 10.4 years. Lung and skin infections were the most frequent manifestations both prior to diagnosis and during follow-up. Aspergillus species was the first cause of infection and of death in our cohort. The mortality rate was 13%. Long term prophylaxis with IFNgamma did not significantly change the rate of total infection per patient-year compared to controls (p=0.07). Our data provide clear evidence that protocols of continuing intensive surveillance and monitoring of compliance with anti-infective regimens may significantly improve the quality of life and long-term survival in patients with CGD. No evidence justifying long-term prophylaxis with IFNgamma was obtained.

Publication types

  • Multicenter Study

MeSH terms

  • Anti-Infective Agents / therapeutic use
  • Antifungal Agents / therapeutic use
  • Antiviral Agents / therapeutic use
  • Bacterial Infections / etiology*
  • Bacterial Infections / prevention & control
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Follow-Up Studies
  • Granulomatous Disease, Chronic* / complications
  • Granulomatous Disease, Chronic* / diagnosis
  • Granulomatous Disease, Chronic* / mortality
  • Humans
  • Infant
  • Interferon-gamma / therapeutic use
  • Italy
  • Itraconazole / therapeutic use
  • Kaplan-Meier Estimate
  • Male
  • Retrospective Studies
  • Treatment Outcome
  • Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use

Substances

  • Anti-Infective Agents
  • Antifungal Agents
  • Antiviral Agents
  • Itraconazole
  • Trimethoprim, Sulfamethoxazole Drug Combination
  • Interferon-gamma