Prof. Dr. Safa Baris and His Team Discovered A New Genetic Disorder Named STAT6 Gain-of-Function

Prof. Dr. Safa Baris and his team from Marmara University Medical Faculty, Department of Pediatric Allergy and Immunology; discovered a new genetic disorder named STAT6 Gain-of-Function. This study was published recently in a prestigious medical journal entitled ‘‘Journal of Allergy and Clinical Immunology’’. The multidisciplinary research study comprised scientists from Marmara University, Harvard Medical School, and TUBITAK, resulting in uncovering a new disease with an understanding of the underlying mechanism and providing successful targeted therapy (Baris et al., Severe Allergic Dysregulation Due to A Gain of Function Mutation in the Transcription Factor STAT6, PMID: 36758835).

Signal transducer and activator of transcription 6 (STAT6) Gain-of-Function is a new inborn error of immunity disorder. This transcription factor plays a vitally important role in immune cells by conducting signals in the nexus of type 2 immunity to promote a variety of allergic responses. In this newly discovered disorder, patients suffered from severe allergic symptoms like treatment-resistant eczema, food allergy, recurrent anaphylaxis, and failure to thrive. By conducting whole exome sequencing, Dr. Barış and his team uncovered a deleterious mutation in the STAT6 gene in a patient with severe allergic manifestations. The mutation leads to hyperphosphorylation in STAT6. This exaggerated response was controlled via a JAK inhibitor. In line with this reversal effect, the clinical manifestations were controlled precisely. With this discovery, the spectrum of the inborn errors of immunity was expanded. Together with Professor Dr. Safa Barış, Professor Dr. Talal Chatila from Harvard Medical School, and Altan Kara Form TUBITAK provided substantial contributions to this study.

We congratulate our esteemed academicians for this important scientific achievement. Especially to Prof. Dr. Safa Barış for his leading the project and other Co-authors Prof. Dr. Ahmet Özen, Prof. Dr. Elif Karakoç Aydıner, Prof. Dr. Deniz Yücelten, Prof. Dr. Leyla Cinel, Doç. Dr. Emine Bozkurtlar, Dr. Sevgi Bilgiç Eltan, Dr. Royala Babayeva, Dr. Asena Pınar Sefer, Dr. Melek Yorgun Altunbaş, and Mehmet Cihangir Çatak for being involved in this study.

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