Pulmonary manifestations in adult patients with chronic granulomatous disease

Eur Respir J. 2015 Jun;45(6):1613-23. doi: 10.1183/09031936.00118414. Epub 2015 Jan 22.


Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. The disease is characterised by recurrent infections and inflammatory events, frequently affecting the lungs. Improvement of life expectancy now allows most patients to reach adulthood. We aimed to describe the pattern of pulmonary manifestations occurring during adulthood in CGD patients. This was a retrospective study of the French national cohort of adult patients (≥16 years old) with CGD. Medical data were obtained for 67 adult patients. Pulmonary manifestations affected two-thirds of adult patients. Their incidence was significantly higher than in childhood (mean annual rate 0.22 versus 0.07, p=0.01). Infectious risk persisted despite anti-infectious prophylaxis. Invasive fungal infections were frequent (0.11 per year per patient) and asymptomatic in 37% of the cases. They often required lung biopsy for diagnosis (10 out of 30). Noninfectious respiratory events concerned 28% of adult patients, frequently associated with a concomitant fungal infection (40%). They were more frequent in patients with the X-linked form of CGD. Immune-modulator therapies were required in most cases (70%). Respiratory manifestations are major complications of CGD in adulthood. Noninfectious pulmonary manifestations are as deleterious as infectious pneumonia. A specific respiratory monitoring is necessary.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anti-Infective Agents / therapeutic use
  • Asymptomatic Diseases
  • Biopsy
  • Cohort Studies
  • Female
  • Granulomatous Disease, Chronic / complications*
  • Granulomatous Disease, Chronic / drug therapy
  • Granulomatous Disease, Chronic / genetics
  • Humans
  • Immunologic Factors / therapeutic use
  • Lung / pathology*
  • Lung Diseases / etiology
  • Lung Diseases, Fungal / diagnosis
  • Lung Diseases, Fungal / drug therapy
  • Lung Diseases, Fungal / etiology*
  • Male
  • Membrane Glycoproteins / genetics
  • Middle Aged
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics
  • Pneumonia, Bacterial / diagnosis
  • Pneumonia, Bacterial / drug therapy
  • Pneumonia, Bacterial / etiology*
  • Retrospective Studies
  • Young Adult


  • Anti-Infective Agents
  • Immunologic Factors
  • Membrane Glycoproteins
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases
  • CYBA protein, human
  • NCF2 protein, human
  • neutrophil cytosolic factor 1