Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

J Allergy Clin Immunol. 2014 Sep;134(3):655-662.e8. doi: 10.1016/j.jaci.2014.04.014. Epub 2014 Jun 27.


Background: Chronic granulomatous disease (CGD) is a rare phagocytic disorder that results in not only infections but also potentially severe inflammatory manifestations that can be difficult to diagnose and treat.

Objective: To describe inflammatory manifestations in a single-center cohort of patients with CGD.

Methods: Medical records of patients treated at Necker-Enfants Malades Hospital (Paris, France) between 1968 and 2009 and registered at the French National Reference Center for Primary Immunodeficiencies (CEREDIH) were retrospectively reviewed.

Results: In a study population of 98 patients, a total of 221 inflammatory episodes were recorded in 68 individuals (69.4%). The incidence rate of inflammatory episodes was 0.15 per person-year (0.18 in patients with X-linked [XL] CGD and 0.08 in patients with autosomal-recessive [AR] CGD). The most commonly affected organs were the gastrointestinal tract (in 88.2% of the patients), lungs (26.4%), the urogenital tract (17.6%), and eyes (8.8%). Inflammation at other sites (the skin, central nervous system, and tympanum) and autoimmune manifestations (lupus, arthritis, etc) were recorded in 19.1% and 10.3% of the patients, respectively. Granuloma was found in 50% of the 44 histological analyses reviewed. The risk of inflammatory episodes was 2-fold higher in patients with XL-CGD than in patients with AR-CGD (relative risk, 2.22; 95% CI, 1.43-3.46).

Conclusions: Patients with XL-CGD have a higher risk of developing inflammatory episodes than do patients with AR-CGD. Although the most commonly affected organ is the gastrointestinal tract, other sites can be involved, making the management of patients with CGD a complex, multidisciplinary task.

Keywords: Chronic granulomatous disease; granuloma; granulomatous; inflammation; inflammatory bowel diseases; interstitial lung disease; macrophage; primary immunodeficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenal Cortex Hormones / therapeutic use
  • Adult
  • Autoantibodies / blood
  • Child
  • Child, Preschool
  • Cohort Studies
  • Eosinophils / immunology*
  • Female
  • Follow-Up Studies
  • France
  • Gastric Mucosa / immunology*
  • Gastritis / etiology
  • Gastritis / immunology*
  • Gastritis / prevention & control
  • Genetic Predisposition to Disease
  • Granuloma / immunology
  • Granulomatous Disease, Chronic / complications
  • Granulomatous Disease, Chronic / drug therapy
  • Granulomatous Disease, Chronic / immunology*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neutrophils / immunology*
  • Retrospective Studies
  • Risk
  • Young Adult


  • Adrenal Cortex Hormones
  • Autoantibodies