Details

Autor(en) / Beteiligte

• Cardenes, M.
• Angel-Moreno, A.
• Fieschi, C.
• Sologuren, I.
• Colino, E.
• Molines, A.
• Garcia-Laorden, M. I.
• Campos-Herrero, M. I.
• Andujar-Sanchez, M.
• Casanova, J.-L.
• Rodriguez-Gallego, C.

Titel

Oesophageal squamous cell carcinoma in a young adult with IL-12R 1 deficiency

Ist Teil von

• Journal of medical genetics, 2010-09, Vol.47 (9), p.635-637

Ort / Verlag

London: BMJ Publishing Group LTD

Erscheinungsjahr

2010

Quelle

BMJ Journals Archiv - DFG Nationallizenzen

Beschreibungen/Notizen

• Genetic defects in the IL-12-IL-23/IFN-[GAMMA] circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-[GAMMA] 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-[GAMMA] axis may predispose to cancer.