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Journal of Clinical Immunology

, Volume 37, Issue 2, pp 113–116 | Cite as

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

  • Sylvie Colin de Verdière
  • Esther Noel
  • Claire Lozano
  • Emilie Catherinot
  • Mickael Martin
  • Elisabeth Rivaud
  • Louis-Jean Couderc
  • Hélène Salvator
  • Jacinta Bustamante
  • Thierry Martin
Letter to Editor

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.

Keywords

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

Notes

Acknowledgments

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.

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).

Supplementary material

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Sylvie Colin de Verdière
    • 1
  • Esther Noel
    • 2
  • Claire Lozano
    • 3
  • Emilie Catherinot
    • 1
  • Mickael Martin
    • 4
  • Elisabeth Rivaud
    • 1
  • Louis-Jean Couderc
    • 1
    • 5
  • Hélène Salvator
    • 1
    • 5
  • Jacinta Bustamante
    • 3
    • 6
    • 7
    • 8
  • Thierry Martin
    • 4
  1. 1.Respiratory Diseases DepartmentFoch HospitalSuresnesFrance
  2. 2.Internal Medicine DepartmentStrasbourg University HospitalStrasbourgFrance
  3. 3.Center for the Study of Primary ImmunodeficienciesNecker Hospital for Sick ChildrenParisFrance
  4. 4.Clinical Immunology and Internal Medicine, Center for Rare Autoimmune DiseasesStrasbourg University Hospital, CNRS 3572StrasbourgFrance
  5. 5.Simone Veil Medical School of Versailles-Saint Quentin-en-Yvelines University, UPRES EA 220VersaillesFrance
  6. 6.Laboratory of Human Genetics of Infectious Diseases, Necker BranchInstitut National de la Santé et de la Recherche Médicale, INSERM-U1163ParisFrance
  7. 7.Imagine InstituteParis Descartes UniversityParisFrance
  8. 8.St. Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller BranchRockefeller UniversityNew YorkUSA

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