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Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 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
Link zum Volltext
Quelle
BMJ Journals Archiv - DFG Nationallizenzen
Beschreibungen/Notizen
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.