Literature DB >> 20798129

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

María Cárdenes, Alfonso Angel-Moreno, Claire Fieschi, Ithaisa Sologuren, Elena Colino, Antonio Molinés, M Isabel García-Laorden, M Isolina Campos-Herrero, Miguel Andújar-Sánchez, Jean-Laurent Casanova, Carlos Rodríguez-Gallego.   

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.

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Year:  2010        PMID： 20798129     DOI： 10.1136/jmg.2009.071910

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Therapeutic targeting of the IL-12/23 pathways: generation and characterization of ustekinumab.

Authors:  Jacqueline M Benson; Clifford W Sachs; George Treacy; Honghui Zhou; Charles E Pendley; Carrie M Brodmerkel; Gopi Shankar; Mary A Mascelli
Journal:  Nat Biotechnol       Date:  2011-07       Impact factor: 54.908

2.  Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Authors:  Ithaisa Sologuren; Stéphanie Boisson-Dupuis; Jose Pestano; Quentin Benoit Vincent; Leandro Fernández-Pérez; Ariane Chapgier; María Cárdenes; Jacqueline Feinberg; M Isabel García-Laorden; Capucine Picard; Esther Santiago; Xiaofei Kong; Lucile Jannière; Elena Colino; Estefanía Herrera-Ramos; Adela Francés; Carmen Navarrete; Stéphane Blanche; Emilia Faria; Pawel Remiszewski; Ana Cordeiro; Alexandra Freeman; Steven Holland; Katia Abarca; Mónica Valerón-Lemaur; José Gonçalo-Marques; Luisa Silveira; José Manuel García-Castellano; José Caminero; José Luis Pérez-Arellano; Jacinta Bustamante; Laurent Abel; Jean-Laurent Casanova; Carlos Rodríguez-Gallego
Journal:  Hum Mol Genet       Date:  2011-01-25       Impact factor: 6.150

Review 3.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

4.  Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

Authors:  C Aytekin; F Dogu; N Tuygun; G Tanir; D Guloglu; S Boisson-Dupuis; J Bustamante; J Feinberg; J L Casanova; A Ikinciogullari
Journal:  J Investig Allergol Clin Immunol       Date:  2011       Impact factor: 4.333

5.  Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.

Authors:  Ingrid P Vogelaar; Rachel S van der Post; Esther van de Vosse; J Han J M van Krieken; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Encarna Gómez García
Journal:  Fam Cancer       Date:  2015-03       Impact factor: 2.375

Review 6.  IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

Authors:  Esther van de Vosse; Margje H Haverkamp; Noe Ramirez-Alejo; Mónica Martinez-Gallo; Lizbeth Blancas-Galicia; Ayşe Metin; Ben Zion Garty; Çağman Sun-Tan; Arnon Broides; Roelof A de Paus; Özlem Keskin; Deniz Çağdaş; Ilhan Tezcan; Encarna Lopez-Ruzafa; Juan I Aróstegui; Jacov Levy; Francisco J Espinosa-Rosales; Özden Sanal; Leopoldo Santos-Argumedo; Jean-Laurent Casanova; Stephanie Boisson-Dupuis; Jaap T van Dissel; Jacinta Bustamante
Journal:  Hum Mutat       Date:  2013-08-08       Impact factor: 4.878

7.  Successful Isavuconazole Salvage Therapy for a Cryptococcus deuterogattii (AFLP6/VGII) Disseminated Infection in a European Immunocompetent Patient.

Authors:  Maria Soledad Cuetara; Juan José Jusdado Ruiz-Capillas; Maria Pilar Nuñez-Valentin; Elena Rodríguez Garcia; Elena Garcia-Benayas; Ricardo Rojo-Amigo; Jose Carlos Rodriguez-Gallego; Ferry Hagen; María Francisca Colom
Journal:  Mycopathologia       Date:  2021-06-11       Impact factor: 2.574

Review 8.  Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.

Authors:  L Taramasso; S Boisson-Dupuis; M L Garrè; E Bondi; A Cama; P Nozza; G Morana; J L Casanova; M G Marazzi
Journal:  J Clin Immunol       Date:  2014-09-14       Impact factor: 8.317

9.  Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Authors:  Nioosha Nekooie-Marnany; Caroline Deswarte; Vajiheh Ostadi; Bahram Bagherpour; Elaheh Taleby; Mazdak Ganjalikhani-Hakemi; Tom Le Voyer; Hamid Rahimi; Jérémie Rosain; Zahra Pourmoghadas; Saba Sheikhbahaei; Razieh Khoshnevisan; Daniel Petersheim; Daniel Kotlarz; Christoph Klein; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante; Roya Sherkat
Journal:  J Clin Immunol       Date:  2018-09-25       Impact factor: 8.317

10.  Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Authors:  Monia Ouederni; Ozden Sanal; Aydan Ikinciogullari; Ilhan Tezcan; Figen Dogu; Ithaisa Sologuren; Sigifredo Pedraza-Sánchez; Melike Keser; Gonul Tanir; Chris Nieuwhof; Elena Colino; Dinakantha Kumararatne; Jacov Levy; Necil Kutukculer; Caner Aytekin; Estefanía Herrera-Ramos; Micah Bhatti; Neslihan Karaca; Ridha Barbouche; Arnon Broides; Ekaterini Goudouris; José Luis Franco; Nima Parvaneh; Ismail Reisli; Alexis Strickler; Anna Shcherbina; Ayper Somer; Anthony Segal; Alfonso Angel-Moreno; José Luis Lezana-Fernandez; Mohamed Bejaoui; Miriam Bobadilla-Del Valle; Salem Kachboura; Timothy Sentongo; Imen Ben-Mustapha; Jacinta Bustamante; Capucine Picard; Anne Puel; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova; Carlos Rodríguez-Gallego
Journal:  Clin Infect Dis       Date:  2013-11-01       Impact factor: 9.079
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