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


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.

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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.

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Corresponding author

Correspondence to Jacinta Bustamante.

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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.

Informed Consent

Written informed consent was obtained from the patients.

Financial Support

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).

Additional information

Sylvie Colin de Verdière and Esther Noel, Hélène Salvator, Jacinta Bustamante and Thierry Martin contributed equally to this work.

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Colin de Verdière, S., Noel, E., Lozano, C. et al. Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients. J Clin Immunol 37, 113–116 (2017).

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  • ROS
  • CGD
  • colitis
  • pulmonary disease
  • NCF1
  • Pantoea
  • inflammatory bowel disease
  • pulmonary aspergillosis