A Significant Discovery Made in Immunology

Major Discovery Marked in Immunology Prof. Dr. Safa Barış, a member of the Turkish National Society of Allergy and Clinical Immunology, and his team colleagues have made an important discovery in immunology. The researchers identified the STAT6 GOF mutation causing "STAT6 Gain-of-Function Disease," a hereditary immune disorder that leads to severe allergic problems, and developed a treatment. The positive results of the treatment have brought hope in allergy management. Underactivity of the immune system alone does not cause disease. Overactivity also causes disease, which is how allergic diseases arise. Congenital immune defects cause numerous immune disorders, including severe allergic diseases. Following the identification of "STAT6 Gain-of-Function Disease," believed to cause immune problems such as allergies that reduce quality of life and complicate daily living, by Prof. Dr. Safa Barış, a member of the Turkish National Society of Allergy and Clinical Immunology (AİD), and his team colleagues, these findings are thought to shed light on the source of many immune diseases, including allergies. Prof. Dr. Safa Barış, Faculty Member at the Department of Pediatric Allergy-Immunology at Marmara University School of Medicine, and his team colleagues, in collaboration 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 mechanism of formation and treatment of a new disease. In this newly identified disease, severe atopic dermatitis, elevated eosinophil values and elevated IgE values can be observed. In a child with elevated levels of these values in blood and diagnosed with STAT6, the application of treatment developed by the team resulted in disease regression.

Severe allergic diseases detected in individuals affected by STAT6

In this disease model, first defined in the literature, severe allergic diseases were detected 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. In detailed analyses performed, this mutation was found to cause excessive activity in the STAT6 protein compared to normal. In subsequent studies, it was observed that reducing STAT6 protein activity with JAK inhibitors led to complete resolution of symptoms and disease control. Prof. Dr. Dilşad Mungan, President of the Turkish National Society of Allergy and Clinical Immunology (AİD), expressed congratulations to Prof. Dr. Safa Barış and his team colleagues, members of the Turkish National Society of Allergy and Clinical Immunology (AİD), and all scientists who contributed to this discovery for their success: "I congratulate Prof. Dr. Safa Barış, Prof. Dr. Ahmet Özen, Prof. Dr. Elif Karakoç Aydıner, Prof. Dr. Deniz Yücelten, Prof. Dr. Leyla Cinel, Assoc. 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 valuable discovery to the literature. I wish continued success in their future work," he said.  

The same center had previously 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 School of Medicine, introduced Chaple Syndrome, a childhood disease with potentially fatal consequences, to the literature. With this discovery, Prof. Dr. Ahmet Oğuzhan Özen, who identified both the diagnosis and treatment of the disease, was awarded the "EFIS Publication Award" in the competition held by the European Federation of Immunological Societies (EFIS).

What is Chaple disease?

In children with Chaple disease, most commonly accompanied by intestinal complaints; vomiting, diarrhea, abdominal pain, and intestinal disorders are observed, and this disease also causes growth retardation in children. Prof. Dr. Ahmet Oğuzhan Özen: "Due to this disease, children cannot grow or develop properly. Mineral and vitamin deficiencies emerge. Anemia develops. These children present to the hospital due to swelling in their eyes, legs, and arms caused by albumin deficiency. We apply a treatment called albumin to these children. The disease generally becomes more severe at older ages. In young children it is more often growth retardation and diarrhea, but in older children we can see vascular blockages, intestinal obstructions, and severe intestinal knotting requiring surgery," he said.