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.

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References

  1. 1.

    Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27:89–99. viii.

    Article  PubMed  Google Scholar 

  2. 2.

    Liese JG, Jendrossek V, Jansson A, Petropoulou T, Kloos S, Gahr M, et al. Chronic granulomatous disease in adults. Lancet. 1996;347:220–3.

    CAS  Article  PubMed  Google Scholar 

  3. 3.

    Sarwar G, de Malmanche T, Rassam L, Grainge C, Williams A, Arnold D. Chronic granulomatous disease presenting as refractory pneumonia in late adulthood. Respirol Case Rep. 2015;3:54–6.

    PubMed  PubMed Central  Google Scholar 

  4. 4.

    Tabarsi P, Mirsaeidi M, Karimi S, Banieghbal B, Mansouri N, Masjedi MR, et al. Lymphocytic bronchiolitis as presenting disorder in an undiagnosed adult patient with chronic granulomatous disease. Iran J Allergy Asthma Immunol. 2007;6:219–21.

    PubMed  Google Scholar 

  5. 5.

    Asensi V, Tricas L, Meana A, Roos D, Carton JA, Maradona JA, et al. Visceral leishmaniasis and other severe infections in an adult patient with p47-phox-deficient chronic granulomatous disease. Infection. 2000;28:171–4.

    CAS  Article  PubMed  Google Scholar 

  6. 6.

    Salvator H, Mahlaoui N, Catherinot E, Rivaud E, Pilmis B, Borie R, et al. Pulmonary manifestations in adult patients with chronic granulomatous disease. Eur Respir J. 2015;45(6):1613–23.

    Article  PubMed  Google Scholar 

  7. 7.

    Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015;60(8):1176–83.

    CAS  Article  PubMed  Google Scholar 

  8. 8.

    Beaute J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux ME, Mouy R, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J. 2011;30:57–62.

    Article  PubMed  Google Scholar 

  9. 9.

    Trawick D, Kotch A, Matthay R, Homer RJ. Eosinophilic pneumonia as a presentation of occult chronic granulomatous disease. Eur Respir J. 1997;10:2166–70.

    CAS  Article  PubMed  Google Scholar 

  10. 10.

    Venincasa VD, Kuriyan AE, Flynn Jr HW, Sridhar J, Miller D. Endophthalmitis caused by Pantoea agglomerans: clinical features, antibiotic sensitivities, and outcomes. Clin Ophthalmol. 2015;9:1203–7.

    CAS  PubMed  PubMed Central  Google Scholar 

  11. 11.

    Fernandez-Munoz H, Lassaletta A, Gonzalez MJ, Andion M, Madero L. Pantoea agglomerans bacteremia in a child with acute lymphoblastic leukemia during induction therapy. J Pediatr Hematol Oncol. 2015;37:328.

    Article  PubMed  Google Scholar 

  12. 12.

    Agudelo-Flórez P, Prando-Andrade CC, López JA, Costa-Carvalho BT, Quezada A, Espinosa FJ, et al. Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics. Pediatr Blood Cancer. 2006;46(2):243–52.

    Article  PubMed  Google Scholar 

  13. 13.

    Van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.

    Article  PubMed  PubMed Central  Google Scholar 

  14. 14.

    Noel N, Mahlaoui N, Blanche S, Suarez F, Coignard-Biehler H, Durieu I, et al. Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series. J Allergy Clin Immunol. 2013;132:997–1000 e1-4.

    CAS  Article  PubMed  Google Scholar 

  15. 15.

    Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O’Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114:462–8.

    Article  PubMed  Google Scholar 

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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.

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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). https://doi.org/10.1007/s10875-017-0370-1

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Keywords

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