Skip to Main content Skip to Navigation
Journal articles

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France

Bertrand Dunogué 1, 2 Benoit Pilmis 1, 2 Nizar Mahlaoui 2, 3, 4 Caroline Elie 5, 6 Hélène Coignard-Biehler 1, 2 Karima Amazzough 1, 2 Nicolas Noel 1 Hélène Salvator 7 Emilie Catherinot 7 Louis-Jean Couderc 7 Harry Sokol 8, 9 Fanny Lanternier 1, 2, 10 Fanny Fouyssac 11 Julie Bardet 12 Jacinta Bustamante 10, 4, 2, 13 Marie-Anne Gougerot-Pocidalo 14 Vincent Barlogis 15 Agathe Masseau 16 Isabelle Durieu 17 Marc Lecuit 6, 1, 2, 10, 18 Felipe Suarez 19, 20 Alain Fischer 2, 3, 10, 21 Stéphane Blanche 22, 2 Olivier Hermine 19, 20 Olivier Lortholary 1, 2, 10, *
* Corresponding author
4 Equipe Inserm U1163 - Génétique Humaine des Maladies Infectieuses
IMAGINE - U1163 - Imagine - Institut des maladies génétiques
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.
Complete list of metadatas

https://hal-pasteur.archives-ouvertes.fr/pasteur-02451326
Contributor : Andrée Diakite <>
Submitted on : Thursday, January 23, 2020 - 11:39:04 AM
Last modification on : Sunday, October 25, 2020 - 7:04:41 AM

Links full text

Identifiers

Citation

Bertrand Dunogué, Benoit Pilmis, Nizar Mahlaoui, Caroline Elie, Hélène Coignard-Biehler, et al.. Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. Clinical Infectious Diseases, Oxford University Press (OUP), 2017, 64 (6), pp.767-775. ⟨10.1093/cid/ciw837⟩. ⟨pasteur-02451326⟩

Share

Metrics

Record views

406