title: Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients.
abstract: Chronic granulomatous disease (CGD) is a primary immunodeficiency associated to multiple life-threatening bacterial and fungal infections, beginning in childhood. There are rare cases of diagnosis in adulthood. We describe here two cases of late diagnosis in adults: a 45-year-old woman and 59-year-old-man. CGD diagnosis should be considered in adult patients with unexplained infectious diseases with tissue granuloma.
authors.affiliation: Respiratory Diseases Department, Foch Hospital, Suresnes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Colin de Verdière
authors.affiliation: Internal Medicine Department, Strasbourg University Hospital, Strasbourg, France.
authors.forename: Esther
authors.initials: E
authors.lastname: Noel
authors.affiliation: Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Lozano
authors.affiliation: Respiratory Diseases Department, Foch Hospital, Suresnes, France.
authors.forename: Emilie
authors.initials: E
authors.lastname: Catherinot
authors.affiliation: Clinical Immunology and Internal Medicine, Center for Rare Autoimmune Diseases, Strasbourg University Hospital, CNRS 3572, Strasbourg, France.
authors.forename: Mickael
authors.initials: M
authors.lastname: Martin
authors.affiliation: Respiratory Diseases Department, Foch Hospital, Suresnes, France.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Rivaud
authors.affiliation: Respiratory Diseases Department, Foch Hospital, Suresnes, France.|Simone Veil Medical School of Versailles-Saint Quentin-en-Yvelines University, UPRES EA 220, Versailles, France.
authors.forename: Louis-Jean
authors.initials: LJ
authors.lastname: Couderc
authors.affiliation: Respiratory Diseases Department, Foch Hospital, Suresnes, France.|Simone Veil Medical School of Versailles-Saint Quentin-en-Yvelines University, UPRES EA 220, Versailles, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Salvator
authors.affiliation: Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France. jacinta.bustamante@inserm.fr.|Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163, Paris, France. jacinta.bustamante@inserm.fr.|Imagine Institute, Paris Descartes University, Paris, France. jacinta.bustamante@inserm.fr.|St. Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch, Rockefeller University, New York, NY, USA. jacinta.bustamante@inserm.fr.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.affiliation: Clinical Immunology and Internal Medicine, Center for Rare Autoimmune Diseases, Strasbourg University Hospital, CNRS 3572, Strasbourg, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Martin
mesh_terms: D015415:Biomarkers; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009504:Neutrophils / Q000276:immunology / Q000378:metabolism; D055732:Pulmonary Aspergillosis / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D014057:Tomography, X-Ray Computed
chemical_list: D015415:Biomarkers
keywords: CGD; NCF1; Pantoea; ROS; colitis; inflammatory bowel disease; pulmonary aspergillosis; pulmonary disease