1. Oesophageal squamous cell carcinoma in a young adult with IL-12R 1 deficiency
- Author
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Alfonso Angel-Moreno, Antonio Molinés, Elena Colino, Claire Fieschi, Carlos Rodríguez-Gallego, M. Isabel García-Laorden, Jean-Laurent Casanova, M. Isolina Campos-Herrero, Ithaisa Sologuren, María Cárdenes, and Miguel Andújar-Sánchez
- Subjects
medicine.medical_specialty ,Esophageal disease ,business.industry ,Cancer ,Cancer susceptibility ,medicine.disease ,Gastroenterology ,stomatognathic diseases ,Endocrinology ,Immunity ,Internal medicine ,Esophagus Squamous Cell Carcinoma ,Genetics ,medicine ,Alcohol intake ,Basal cell ,Young adult ,business ,Genetics (clinical) - 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-12R β 1 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.
- Published
- 2010
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