Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients

Sylvie Colin de Verdière (1) , Esther Noel (2) , Claire Lozano (3) , Emilie Catherinot (1) , Mickaël Martin (4) , Elisabeth Rivaud (1) , Louis-Jean Couderc (1) , Hélène Salvator (1) , Jacinta Bustamante (5, 3, 6, 7) , Thierry Martin (8)

1 Hôpital Foch [Suresnes]
2 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
3 Hôpital Necker - Enfants Malades [AP-HP]
4 ICT - Immunopathologie et chimie thérapeutique
5 Service d'immuno-hématologie pédiatrique [CHU Necker]
6 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
7 Rockefeller University [New York]
8 ICT - Immunologie et chimie thérapeutiques

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.

Mots clés: CGD; NCF1; Pantoea; ROS; colitis; inflammatory bowel disease; pulmonary aspergillosis; pulmonary disease

Domaines: Immunologie; Médecine humaine et pathologie

Sylvie Colin de Verdière, Esther Noel, Claire Lozano, Emilie Catherinot, Mickaël Martin, et al.. Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients. Journal of Clinical Immunology, 2017, 37 (2), pp.113 - 116. ⟨10.1007/s10875-017-0370-1⟩. ⟨hal-01791495⟩