Literature DB >> 26761636

IL-12 receptor 1β deficiency with features of autoimmunity and photosensitivity.

Galina Ling1, Eduard Ling2, Arnon Broides3, Hagit Poran Feldman4, Jacov Levy3, Ben-Zion Garty4,5, Amit Nahum3,6.   

Abstract

Primary immunodeficiences are often accompanied by autoimmune phenomena. IL-12 receptor deficiency is a well characterized primary immunodeficiency that leads to propensity to intracellular infections mainly with mycobacteria and Salmonella. We report on two patients with IL-12 receptor β1 deficiency that presented with autoimmune manifestations and photosensitivity dermatitis and describe possible pathogenetic mechanisms leading to development of clinically significant autoimmune phenomena.

Entities:  

Keywords:  Interleukin-12 receptor deficiency; SLE; immunoregulation; photosensitivity

Mesh：

Substances：

Year:  2016        PMID： 26761636     DOI： 10.3109/08916934.2015.1134513

Source DB:  PubMed          Journal:  Autoimmunity        ISSN： 0891-6934            Impact factor:   2.815


  6 in total

Review 1.  Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency.

Authors:  Ankur Kumar Jindal; Deepti Suri; Sandesh Guleria; Amit Rawat; Sumit Garg; Amanjit Bal; Jean-Laurent Casanova; Jacinta Bustamante; Surjit Singh
Journal:  J Clin Immunol       Date:  2019-05-17       Impact factor: 8.317

Review 2.  Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Authors:  Jérémie Rosain; Xiao-Fei Kong; Ruben Martinez-Barricarte; Carmen Oleaga-Quintas; Noé Ramirez-Alejo; Janet Markle; Satoshi Okada; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Immunol Cell Biol       Date:  2018-10-25       Impact factor: 5.126

3.  First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren's Syndrome.

Authors:  Georgios Sogkas; Faranaz Atschekzei; Vivien Schacht; Christian von Falck; Alexandra Jablonka; Roland Jacobs; Matthias Stoll; Torsten Witte; Reinhold E Schmidt
Journal:  Front Immunol       Date:  2017-07-28       Impact factor: 7.561

Review 4.  The IL-12 Cytokine and Receptor Family in Graft-vs.-Host Disease.

Authors:  David Bastian; Yongxia Wu; Brian C Betts; Xue-Zhong Yu
Journal:  Front Immunol       Date:  2019-05-08       Impact factor: 7.561

Review 5.  A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Authors:  Jérémie Rosain; Carmen Oleaga-Quintas; Caroline Deswarte; Hannah Verdin; Stéphane Marot; Garyfallia Syridou; Mahboubeh Mansouri; S Alireza Mahdaviani; Edna Venegas-Montoya; Maria Tsolia; Mehrnaz Mesdaghi; Liudmyla Chernyshova; Yuriy Stepanovskiy; Nima Parvaneh; Davood Mansouri; Sigifredo Pedraza-Sánchez; Anastasia Bondarenko; Sara E Espinosa-Padilla; Marco A Yamazaki-Nakashimada; Alejandro Nieto-Patlán; Gaspard Kerner; Nathalie Lambert; Corinne Jacques; Emilie Corvilain; Mélanie Migaud; Virginie Grandin; María T Herrera; Fabienne Jabot-Hanin; Stéphanie Boisson-Dupuis; Capucine Picard; Patrick Nitschke; Anne Puel; Frederic Tores; Laurent Abel; Lizbeth Blancas-Galicia; Elfride De Baere; Christine Bole-Feysot; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2018-07-11       Impact factor: 8.317

Review 6.  Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.

Authors:  Georgios Sogkas; Faranaz Atschekzei; Ignatius Ryan Adriawan; Natalia Dubrowinskaja; Torsten Witte; Reinhold Ernst Schmidt
Journal:  Cell Mol Immunol       Date:  2021-04-01       Impact factor: 11.530
  6 in total

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