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Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiency
  1. María Cárdenes1,2,
  2. Alfonso Angel-Moreno3,4,
  3. Claire Fieschi5,6,
  4. Ithaisa Sologuren1,
  5. Elena Colino7,
  6. Antonio Molinés8,
  7. M Isabel García-Laorden1,
  8. M Isolina Campos-Herrero9,
  9. Miguel Andújar-Sánchez10,
  10. Jean-Laurent Casanova5,11,12,
  11. Carlos Rodríguez-Gallego1,2
  1. 1Department of Immunology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain
  2. 2Canarian Institute for Cancer Research (ISCiii-RTICCC-C03/10), La Laguna, Santa Cruz de Tenerife, Spain
  3. 3Department of Internal Medicine, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
  4. 4Department of Internal Medicine, Puerta de Hierro Hospital, Madrid, Spain (current address)
  5. 5Laboratory of Human Genetics of Infectious Diseases, Necker Branch, University of Paris Descartes INSERM U980, Necker Medical School, Paris, France
  6. 6Department of Immunopathology and EA3963, Paris University 7 and APHP, Saint Louis Hospital, Paris, France (current address)
  7. 7Department of Paediatrics, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
  8. 8Department of Haematology, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
  9. 9Department of Microbiology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain
  10. 10Department of Pathology, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
  11. 11Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
  12. 12Paediatric Immunology-Haematology Unit, Necker Hospital, Paris, France
  1. Correspondence to Carlos Rodríguez-Gallego, Servicio de Inmunología, Hospital Universitario de Gran Canaria Dr. Negrín, Barranco de la Ballena s/n, 35010 Las Palmas de Gran Canaria, Spain; jrodgal{at}gobiernodecanarias.org

Abstract

Genetic defects in the IL-12-IL-23/IFN-γ circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-γ axis is essential for anti-tumoral immunity in mice. Cancer susceptibility has not been recognised in these patients so far. We report three relatives with IL-12Rβ1 deficiency. At the age of 25 years old, one patient presented with oesophageal squamous cell carcinoma (OSCC). The patient had no previous risk factors for OSCC. He died at the age of 29 years. OSCC is exceedingly rare in individuals under 30 years and frequently relates to alcohol intake and smoking. Disorders of the IL-12-IL-23/IFN-γ axis may predispose to cancer.

  • Interleukin-12 receptor beta 1 chain
  • primary immunodeficiency
  • cancer
  • mycobacterium
  • salmonella

https://doi.org/10.1136/jmg.2009.071910

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    Footnotes

    • Linked article 72108.

    • Funding This work was supported by grants from the Instituto de Salud Carlos III, Ministerio de Sanidad [grant number RedRespira-ISCiii-RTIC-03/11], Fundación Canaria de Investigación y Salud (FUNCIS, Gobierno de Canarias) [grant number INREDCAN 5/06), and by Premio de Investigación Fundación Caja Rural de Canarias-Chil y Naranjo 2004 to [CR-G]. Maria Cárdenes was supported by a grant from the Canarian Institute for Cancer Research (ISCiii-RTICCC-C03/10). MIG-L was supported by the RedRespira-ISCiii-RTIC-03/11. JLC is an International Scholar of the Howard Hughes Medical Institute. The sponsors of the study had no role in designing the study, collecting, analysing and interpreting the data or writing the paper.

    • Competing interests None.

    • Patient consent Informed consent was obtained from the patients, or their parents, and their relatives. The protocol was approved by the local ethics committee of the Complejo Hospitalario Universitario Insular Materno Infantil (Las Palmas de Gran Canaria).

    • Ethics approval This study was conducted with the approval of the Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria.

    • Provenance and peer review Not commissioned; externally peer reviewed.

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