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Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations
Safa Barış1, Talal A. Chatila21Division of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, İstanbul, Turkey, İstanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Marmara University, İstanbul, Turkey and The Işıl Berat Barlan Center for Translational Medicine, Marmara University, İstanbul, Turkey2Division of Immunology, Boston Children’s Hospital, Boston, Massachusetts, USA and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
Human inborn errors of immunity (IEI) are a group of distinct genetic disorders affecting children and adults, leading to recurrent infections, immune dysregulations, and malignancies. Over the course of the past decades, this area of research has witnessed significant progress in describing numerous monogenic disorders. A subset of IEI, which manifests as severe allergic disorders, recently termed "primary atopic disorders'', now encompasses over 30 monogenic defects. Notably, the Janus kinase (JAK)-signal transducer and activator of transcription 6 (STAT6) signaling pathway plays a pivotal role in mediating allergic responses and developing primary atopic disorders. Herein, we detail a newly described IEI disorder due to gain-of-function mutations in STAT6 associated with severe allergic dysregulation. We outline its underlying mechanisms and present therapeutic approaches to its management.
Keywords: Inborn errors of immunity, primary atopic disorder, genetic, HyperIgE, JAK-STAT6 pathway, gain-of-function, targeted therapyManuscript Language: English
