Member of the Turkish National Allergy and Clinical Immunology Association Prof. Dr. Safa Barış and his teammates made an important breakthrough in immunology. Researchers developed a treatment by identifying the STAT6 GOF mutation that causes “STAT6 Gain of Function Disease”, an inherited immune disease that causes serious allergic problems. The positive results of the treatment were a glimmer of hope in allergy.
Just a little work of the immune system does not cause disease. Exaggerated work also causes illness, which is how allergic diseases appear. Inborn errors of immunity cause numerous immune disorders, including severe allergic diseases. Turkey National Allergy and Clinical Immunology Association (AID) Member of “STAT6 Gain of Function Disease”, which is thought to cause immune problems such as allergies, which reduces the quality of life and makes life difficult. Dr. After being identified by Safa Barış and his colleagues, these findings are thought to shed light on the source of many immune diseases such as allergies.
Marmara University Faculty of Medicine, Pediatric Allergy-Immunology Department Lecturer Prof. Dr. Safa Barış and his teammates, Exp. Dr. Altan Kara and Harvard Medical School Prof. Dr. With this joint work of Talal Chatila and his team, the mechanism of formation and treatment of a new disease was brought to the literature. Severe atopic dermatitis, high eosinophil values and high IgE values can be seen in this newly defined disease. It was observed that the disease regressed with the application of the treatment developed by the team in a child who was diagnosed with STAT6 and had high blood levels of these values.
Severe allergic disease detected in individuals affected by STAT6
In this disease model described for the first time in the literature, severe allergic diseases were detected in affected individuals. Dr. Safa Barış and his team revealed an important mutation in the STAT6 gene by applying whole exome sequencing to a family with these complaints. In detailed analyzes, it was seen that this mutation caused more work than normal in STAT6 protein. In follow-up studies, it was observed that reducing STAT6 protein activity with JAK inhibitors led to complete improvement in complaints and disease control was achieved.
Member of the Turkish National Allergy and Clinical Immunology Association (AID) Prof. Dr. Expressing that he congratulated Safa Barış and his teammates and all the scientists who contributed to this invention for their success, President of the Turkish National Allergy and Clinical Immunology Association Prof. Dr. Dilşad Mungan, “First of all, Prof. Dr. Safa Barış and Prof. Dr. Ahmet Ozen, Prof. Dr. Elif Karakoç Aydıner, Prof. Dr. Deniz Yucelten, Prof. Dr. Leyla Cinel, Assoc. Dr. Emine Bozkurtlar, Dr. Dr. Sevgi Bilgic Eltan, Dr. Dr. Royala Babayeva, Exp. Dr. Asena Pınar Sefer, Exp. Dr. I congratulate Melek Yorgun Altunbaş and MSc student Mehmet Cihangir Çatak for this important achievement. They have brought a very valuable invention to the literature. I wish you continued success,” he said.
It is possible to reach the details of this study, which was published in the “Journal of Allergy and Clinical Immunology”, which has a very respected place in the field of immunodeficiency, from the link https://pubmed.ncbi.nlm.nih.gov/36758835/.
The same center had previously brought Chaple Syndrome to the scientific world.
Previously, Professor at Marmara University Faculty of Medicine, Department of Pediatric Allergy Immunology. Dr. Ahmet Oğuzhan Özen introduced Chaple Syndrome, a potentially fatal childhood disease, to the literature. Finding both the diagnosis and treatment of the disease, Prof. Dr. With this invention, Ahmet Oğuzhan Özen was deemed worthy of the “EFIS Publication Award” in the competition of the European Federation of Immunology Societies (EFIS).
What is Chaple’s disease?
With most intestinal complaints in children with Chaple’s disease; While vomiting, diarrhea, abdominal pain, intestinal disorders are seen, this disease also causes growth retardation in children. prof. Dr. Ahmet Oğuzhan Özen said about the disease, “Because of this disease, children cannot grow and develop. Mineral and vitamin deficiencies occur. Anemia occurs. These children apply to the hospital due to albumin deficiency, swelling in their eyes, legs and arms. We apply a treatment called albumin to these children. The disease is generally “It becomes more severe in advancing ages. While we can see more growth retardation and diarrhea in young children, we can also see vascular occlusions, intestinal occlusions, and severe intestinal knots that require surgery in older children,” he said.
Source: (BYZHA) – Beyaz News Agency
