title: Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France.
abstract: Although prognosis of Chronic Granulomatous Disease (CGD) has greatly improved, few studies have focused on its long-term outcome. We studied the clinical course and sequelae of CGD patients diagnosed before age 16, at various adult time points.
  
  
  
  Cross-sectional French nationwide retrospective study of patients screened through the National Reference Center for Primary Immunodeficiencies (CEREDIH) registry.
  
  
  
  Eighty CGD patients (71 males [88.7%], 59 X-linked [73.7%], median age 23.9 years [minimum, 16.6; maximum, 59.9]) were included, Median ages at diagnosis and last follow-up were 2.52 and 23.9 years, respectively. Seven patients underwent hematopoietic stem cell transplantation. A total of 553 infections requiring hospitalization occurred in 2017 patient-years. The most common site of infection was pulmonary (31%). Aspergillus spp. (17%) and Staphylococcus aureus (10.7%) were the commonest pathogens. A total of 224 inflammatory episodes occurred in 71 patients, mainly digestive (50%). Their characteristics as well as their annual frequency did not vary before and after age 16. Main sequelae were a small adult height and weight and mild chronic restrictive respiratory failure. At age 16, only 53% of patients were in high school. After age 30 years, 9/13 patients were working. Ten patients died during adulthood.
  
  
  
  Adult CGD patients displayed similar characteristics and rates of severe infections and inflammatory episodes that those of childhood. The high rate of handicap has become a matter of medical and social consideration. Careful follow-up in centers of expertise is strongly recommended and an extended indication of curative treatment by HSCT should be considered.
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Dunogué
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.
authors.forename: Benoit
authors.initials: B
authors.lastname: Pilmis
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.|Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.|Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Inserm U1163.
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
authors.affiliation: Université Paris Descartes, Faculté de Médecine, EA 4472, Service de Biostatistique et Informatique Médicale Hôpital Universitaire Necker-Enfants Malades, AP-HP.
authors.forename: Caroline
authors.initials: C
authors.lastname: Elie
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.
authors.forename: Hélène
authors.initials: H
authors.lastname: Coignard-Biehler
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.
authors.forename: Karima
authors.initials: K
authors.lastname: Amazzough
authors.affiliation: Servicede Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Noël
authors.affiliation: Hopital Foch, Service de Pneumologie, Suresnes, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Salvator
authors.affiliation: Hopital Foch, Service de Pneumologie, Suresnes, France.
authors.forename: Emilie
authors.initials: E
authors.lastname: Catherinot
authors.affiliation: Hopital Foch, Service de Pneumologie, Suresnes, France.
authors.forename: Louis-Jean
authors.initials: LJ
authors.lastname: Couderc
authors.affiliation: Service de Gastroentérologie, Hôpital Saint-Antoine, Assistance Publique Hôpitaux de Paris, Université Paris VI, France.
authors.forename: Harry
authors.initials: H
authors.lastname: Sokol
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.|Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Lanternier
authors.affiliation: Centre Hospitalo-Universitaire Nancy, Onco-hématologie pédiatrique, Hôpital d''Enfants.
authors.forename: Fanny
authors.initials: F
authors.lastname: Fouyssac
authors.affiliation: Centre Hospitalo-Universitaire de Grenoble site Nord, Service d''Onco-Hématologie Pédiatrique, Hôpital Albert Michalon.
authors.forename: Julie
authors.initials: J
authors.lastname: Bardet
authors.affiliation: Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.|Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Inserm U1163, Paris, France.|Centre de reference des deficits immunitaires hérédiataires (CEREDIH), Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Necker-Enfants Malades, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Département d''Hématologie et Immunologie Biologiques, CHU Paris Nord-Val de Seine, Hôpital Xavier Bichat-Claude Bernard.
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Gougerot-Pocidalo
authors.affiliation: Assistance Publique-Hôpitaux de Marseille, Service de Pédiatrie et Hématologie Pédiatrique, CHU de Marseille, Hôpital de la Timone, Marseille.
authors.forename: Vincent
authors.initials: V
authors.lastname: Barlogis
authors.affiliation: Centre Hospitalo-Universitaire de Nantes, Service de Médecine Interne, Hôpital Hotel Dieu.
authors.forename: Agathe
authors.initials: A
authors.lastname: Masseau
authors.affiliation: Centre Hospitalo-Universitaire Lyon, Service de Médecine Interne et Pathologie Vasculaire, Centre Hospitalier Lyon Sud, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Durieu
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.|Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.|Institut Pasteur, INSERM, Groupe Microorganismes et barrières de l'Hôte, Paris, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Lecuit
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d''Hématologie Adultes, Hôpital Necker-Enfants Malades, Paris, France et Université Paris Descartes.|INSERM U1163 & CNRS ERL 8254, Institut Imagine, Sorbonne Paris Cité, Paris, France.
authors.forename: Felipe
authors.initials: F
authors.lastname: Suarez
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.|Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.|College de France, Paris, France.|INSERM UMR 1163, Paris, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.|Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Service d''Hématologie Adultes, Hôpital Necker-Enfants Malades, Paris, France et Université Paris Descartes.|INSERM U1163 & CNRS ERL 8254, Institut Imagine, Sorbonne Paris Cité, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.affiliation: Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.|Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.|Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lortholary
mesh_terms: D000293:Adolescent; D000367:Age Factors; D019072:Antibiotic Prophylaxis; D015551:Autoimmunity; D001424:Bacterial Infections / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005260:Female; D005602:France / Q000453:epidemiology; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009181:Mycoses / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D010641:Phenotype; D011159:Population Surveillance; D012042:Registries; D012189:Retrospective Studies; D016019:Survival Analysis; D063189:Symptom Assessment
keywords: adulthood; chronic granulomatous disease; primary immunodeficiency; sequelae; transition