title: Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency.
abstract: 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 beta 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.
authors.forename: María
authors.initials: M
authors.lastname: Cárdenes
authors.forename: Alfonso
authors.initials: A
authors.lastname: Angel-Moreno
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Ithaisa
authors.initials: I
authors.lastname: Sologuren
authors.forename: Elena
authors.initials: E
authors.lastname: Colino
authors.forename: Antonio
authors.initials: A
authors.lastname: Molinés
authors.forename: M Isabel
authors.initials: MI
authors.lastname: García-Laorden
authors.forename: M Isolina
authors.initials: MI
authors.lastname: Campos-Herrero
authors.forename: Miguel
authors.initials: M
authors.lastname: Andújar-Sánchez
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Carlos
authors.initials: C
authors.lastname: Rodríguez-Gallego
mesh_terms: D000293:Adolescent; D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000378:metabolism* / Q000473:pathology; D002648:Child; D004938:Esophageal Neoplasms / Q000378:metabolism* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000378:metabolism; D055815:Young Adult
chemical_list: C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12