title: Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.
abstract: 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.
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Magnani
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Brosselin
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Beauté
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: de Vergnes
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Richard
authors.initials: R
authors.lastname: Mouy
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Marianne
authors.initials: M
authors.lastname: Debré
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France; Assistance Publique-Hôpitaux de Paris, Service d'Hématologie Adultes, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Felipe
authors.initials: F
authors.lastname: Suarez
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France; Assistance Publique-Hôpitaux de Paris, Service d'Hématologie Adultes, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France; Assistance Publique-Hôpitaux de Paris, Service de Maladies Infectieuses et Tropicales, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lortholary
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France; Collège de France, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratoire de Génétique Humaine des Maladies Infectieuses, Hopital Universitaire Necker-Enfants Malades, Inserm U1163, Paris, France. Electronic address: nizar.mahlaoui@nck.aphp.fr.
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D001323:Autoantibodies / Q000097:blood; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004804:Eosinophils / Q000276:immunology*; D005260:Female; D005500:Follow-Up Studies; D005602:France; D005753:Gastric Mucosa / Q000276:immunology*; D005756:Gastritis / Q000209:etiology / Q000276:immunology* / Q000517:prevention & control; D020022:Genetic Predisposition to Disease; D006099:Granuloma / Q000276:immunology; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000188:drug therapy / Q000276:immunology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009504:Neutrophils / Q000276:immunology*; D012189:Retrospective Studies; D012306:Risk; D055815:Young Adult
chemical_list: D000305:Adrenal Cortex Hormones; D001323:Autoantibodies
keywords: Chronic granulomatous disease; granuloma; granulomatous; inflammation; inflammatory bowel diseases; interstitial lung disease; macrophage; primary immunodeficiency