Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients
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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.
KeywordsROS CGD colitis pulmonary disease NCF1 Pantoea inflammatory bowel disease pulmonary aspergillosis
We would like to thank the patients, whose cooperation was essential in this study. We thank O. Georges for the histological diagnosis and B. Saada for the medical assistance.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflict of interest.
Research Involving Human Participants
Informed consent for participation in this study was obtained in accordance with local regulations, with approval from the IRB. The experiments described here were performed in France, in accordance with local regulations, and with the approval of the IRB of the Necker Hospital for Sick Children, France.
Written informed consent was obtained from the patients.
The Laboratory of Human Genetics of Infectious Diseases is supported by institutional grants from INSERM, University Paris Descartes, The Rockefeller University, and the St. Giles Foundation, and grants from the French National Research Agency (ANR) under the “Investments for the future” program (grant no. ANR-10-IAHU-01) and the IFNGPHOX grant (no. ANR13-ISV3-0001-01).