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

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.

Keywords:

• Interleukin-12 receptor deficiency
• immunoregulation
• photosensitivity
• SLE

Declaration of interest

The authors declare no conflict of interests.