Ahmet Ozen

I have been working as a Professor of Pediatrics in the Division of Pediatric Allergy and Immunology at Marmara University, Istanbul, Turkey. I focus my program on training residents in pediatrics and clinical fellows in Pediatric Allergy and Immunology. My unit acts as a referral center in Turkey to diagnose and treat patients with various immunological diseases, including childhood allergies and immune deficiencies. Because of high consanguinity rates in the region, primary immune deficiency (PID) disorders are more common than western countries. We have established various immunological assays to aid the diagnosis of different PIDs, including antibody deficiency disorders, combined immune deficiencies, lymphoproliferative disorders, and neutrophil defects. Apart from efforts in identifying known genetic causes, we have been collaborating with several research laboratories in the United States and Europe to enable the identification of novel genetic disorders among patients with unknown etiologies. I have carried a postdoctoral research fellowship at the Michael Lenardo Lab at the NIAID, NIH, between 2014 and 2016. During my research, I have discovered CHAPLE syndrome caused by biallelic loss of function mutations in the CD55 gene, which was published in a very high-profile journal, the New England Journal of Medicine (Ozen A et al. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61). Since then, I have been investigating the pathogenetic mechanisms of this disorder to develop novel therapeutic strategies. The findings of this research have led to exciting discoveries, described in an article recently accepted for publication in the prestigious journal Nature Immunology (Ozen A, ...& Michael Lenardo. Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease). Our findings have stimulated translational studies that attracted attention from the industry. We have recently started a clinical trial to test a novel complement inhibitor therapy in CHAPLE disease (NCT04209634). My center is the first site globally to enroll subjects for this trial. Notably, all these exciting studies are a product of joint research between Marmara University and the NIH. Our center has contributed to the identification of DOCK8 deficiency and understanding of the pathogenetic mechanisms of this disorder through collaborative work. The joint projects between Marmara University and several genomics centers in the US and Europe have resulted in the discovery of various immune diseases such as PASLI disease caused by PIK3R1 mutations, GIMAP5 deficiency, CHAPLE disease, a hyper-IgE syndrome caused by ZNF341 deficiency, POLD2 deficiency, and some others are under active research.