Bertrand Dunogué1,2, Benoit Pilmis1,2, Nizar Mahlaoui2,3,4,5, Caroline Elie6, Hélène Coignard-Biehler1,2, Karima Amazzough1,2, Nicolas Noël7, Hélène Salvator8, Emilie Catherinot8, Louis-Jean Couderc8, Harry Sokol9, Fanny Lanternier1,2,4, Fanny Fouyssac10, Julie Bardet11, Jacinta Bustamante4,12,13,14, Marie-Anne Gougerot-Pocidalo15, Vincent Barlogis16, Agathe Masseau17, Isabelle Durieu18, Marc Lecuit1,2,4,19, Felipe Suarez20,21, Alain Fischer2,3,4,22,23, Stéphane Blanche2,3, Olivier Hermine20,21, Olivier Lortholary1,2,4. 1. Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France. 2. Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades. 3. Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France. 4. Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France. 5. Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Inserm U1163. 6. Université Paris Descartes, Faculté de Médecine, EA 4472, Service de Biostatistique et Informatique Médicale Hôpital Universitaire Necker-Enfants Malades, AP-HP. 7. Servicede Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France. 8. Hopital Foch, Service de Pneumologie, Suresnes, France. 9. Service de Gastroentérologie, Hôpital Saint-Antoine, Assistance Publique Hôpitaux de Paris, Université Paris VI, France. 10. Centre Hospitalo-Universitaire Nancy, Onco-hématologie pédiatrique, Hôpital d''Enfants. 11. Centre Hospitalo-Universitaire de Grenoble site Nord, Service d''Onco-Hématologie Pédiatrique, Hôpital Albert Michalon. 12. Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Inserm U1163, Paris, France. 13. Centre de reference des deficits immunitaires hérédiataires (CEREDIH), Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Necker-Enfants Malades, France. 14. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA. 15. Assistance Publique-Hôpitaux de Paris, Département d''Hématologie et Immunologie Biologiques, CHU Paris Nord-Val de Seine, Hôpital Xavier Bichat-Claude Bernard. 16. Assistance Publique-Hôpitaux de Marseille, Service de Pédiatrie et Hématologie Pédiatrique, CHU de Marseille, Hôpital de la Timone, Marseille. 17. Centre Hospitalo-Universitaire de Nantes, Service de Médecine Interne, Hôpital Hotel Dieu. 18. Centre Hospitalo-Universitaire Lyon, Service de Médecine Interne et Pathologie Vasculaire, Centre Hospitalier Lyon Sud, France. 19. Institut Pasteur, INSERM, Groupe Microorganismes et barrières de l'Hôte, Paris, France. 20. Assistance Publique-Hôpitaux de Paris, Service d''Hématologie Adultes, Hôpital Necker-Enfants Malades, Paris, France et Université Paris Descartes. 21. INSERM U1163 & CNRS ERL 8254, Institut Imagine, Sorbonne Paris Cité, Paris, France. 22. College de France, Paris, France. 23. INSERM UMR 1163, Paris, France.
Abstract
Background: 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. Method: Cross-sectional French nationwide retrospective study of patients screened through the National Reference Center for Primary Immunodeficiencies (CEREDIH) registry. Results: 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. Conclusions: 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.
Background: 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 CGDpatients diagnosed before age 16, at various adult time points. Method: Cross-sectional French nationwide retrospective study of patients screened through the National Reference Center for Primary Immunodeficiencies (CEREDIH) registry. Results: Eighty CGDpatients (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. Conclusions: Adult CGDpatients 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.
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