IL-12 receptor 1β deficiency with features of autoimmunity and photosensitivity. (2nd April 2016)

• Record Type: Journal Article
• Authors: Ling, Galina; Ling, Eduard; Broides, Arnon; Poran Feldman, Hagit; Levy, Jacov; Garty, Ben-Zion; Nahum, Amit
• Is Part Of: Autoimmunity. Volume 49:Number 3(2016)
• Page Start: 143
• Page End: 146
• Publication Date: 2016-04-02
• Subjects: Interleukin-12 receptor deficiency -- immunoregulation -- photosensitivity -- SLE; Autoimmunity -- Periodicals; Autoimmune diseases -- Periodicals; 571.973
• DOI: 10.3109/08916934.2015.1134513
• Languages: English
• ISSNs: 0891-6934

Abstract

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.