A Significant Discovery for Immunology Turkish National Allergy and Clinical Immunology Society member Prof. Dr. Safa Barış and his team have made an important breakthrough in immunology. Researchers identified the STAT6 GOF mutation that causes "STAT6 Gain-of-Function Disease," a hereditary immune disorder that leads to severe allergic problems, and developed a treatment for it. The positive results of the treatment have brought hope to allergy management. Immune system dysfunction does not only occur when it works too little. It also causes disease when it works excessively, which is how allergic diseases develop. Congenital immune errors cause numerous immune disorders, including severe allergic diseases. Following the identification of "STAT6 Gain-of-Function Disease" — thought to cause immune problems such as allergies that reduce quality of life and make living difficult — by Prof. Dr. Safa Barış, a member of the Turkish National Allergy and Clinical Immunology Society (AİD), and his team, these findings are expected to shed light on the origins of many immune diseases, including allergies. Prof. Dr. Safa Barış, faculty member of the Department of Pediatric Allergy-Immunology at Marmara University Faculty of Medicine, and his team, along with Specialist Dr. Altan Kara from TÜBİTAK and Prof. Dr. Talal Chatila and his team from Harvard Medical School, have added to the literature the pathogenic mechanism and treatment of a newly identified disease through this collaborative work. In this newly described disease, severe atopic dermatitis, elevated eosinophil levels and elevated IgE values can be observed. In a child with elevated levels of these values in blood and diagnosed with STAT6, application of the treatment developed by the team resulted in disease regression.

Severe allergic diseases detected in individuals affected by STAT6

In this disease model, first described in the literature, severe allergic diseases were identified in affected individuals. Dr. Safa Barış and his team applied whole-exome sequencing to a family with these complaints and identified a significant mutation in the STAT6 gene. Detailed analyses showed that this mutation caused the STAT6 protein to function excessively. In subsequent studies, it was demonstrated that reducing STAT6 protein activity with JAK inhibitors led to complete resolution of symptoms and achieved disease control. Prof. Dr. Dilşad Mungan, Chair of the Turkish National Allergy and Clinical Immunology Society (AİD), said he congratulates Prof. Dr. Safa Barış and his team, as well as all scientists who contributed to this discovery, for their success, and continued as follows: "I congratulate Prof. Dr. Safa Barış, Prof. Dr. Ahmet Özen, Prof. Dr. Elif Karakoç Aydıner, Prof. Dr. Deniz Yücelten, Prof. Dr. Leyla Cinel, Associate Prof. Dr. Emine Bozkurtlar, Specialist Dr. Sevgi Bilgiç Eltan, Specialist Dr. Royala Babayeva, Specialist Dr. Asena Pınar Sefer, Specialist Dr. Melek Yorgun Altunbaş and Master's student Mehmet Cihangir Çatak for this important achievement. They have brought a highly valuable discovery to the literature. I wish for continued success." Details of this study, published in the ''Journal of Allergy and Clinical Immunology,'' which holds a highly respected position in immunodeficiency, can be accessed via this link.

Had introduced Chaple Syndrome to the scientific world

Previously, Prof. Dr. Ahmet Oğuzhan Özen, a faculty member at the Department of Pediatric Allergy Immunology at Marmara University Faculty of Medicine, had introduced Chaple Syndrome — a potentially fatal childhood disease — to the literature. Prof. Dr. Ahmet Oğuzhan Özen, who discovered both the diagnosis and treatment of the disease, was awarded the "EFIS Publication Award" in a competition held by the European Federation of Immunological Societies (EFIS) for this discovery.