2022年 新着論文 40 免疫アレルギー学分野から論文が発表されました

The signal transducer and activator of transcription 3 at the center of the causative gene network of the hyper-IgE syndrome

Curr Opin Immunol. 2022 Nov 23;80:102264. doi: 10.1016/j.coi.2022.102264. Online ahead of print.

Affiliations

  • 1Division of Molecular Medicine, Institute of Advanced Medical Sciences, Tokushima University, Japan. Electronic address: yminegishi@genome.tokushima-u.ac.jp.

Abstract

The hyper-IgE syndrome (HIES) is characterized by atopic dermatitis with extremely high serum IgE levels and diminished inflammatory responses, in combination with bacterial and fungal infections followed by pneumatocele formation. These immunological manifestations are frequently associated with nonimmunological abnormalities, including characteristic face, pathological fracture, and retention of deciduous teeth. We previously identified that major causal variants of the HIES are dominant-negative variants in the signal transducer and activator of transcription 3 (STAT3) gene. Several new causative variants of HIES have been identified, interestingly, most of which are functionally associated with STAT3. These include a zinc finger transcription factor ZNF341 as well as IL-6 family cytokine receptors, IL6ST, and IL-6R. In this review, I will outline the pathological mechanisms of new causative variants, in which STAT3 is at the center of the causative gene network.