This work, jointly conducted at the centers of the USA and Europe, defines a new immune system disease, which is predominantly seen in families of Turkish origin. Our investigators have named the disease an acronym that describes clinical features: CHAPLE disease (CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy). Researchers have elucidated the genetic and molecular causes of this disease, which was not previously described in the medical literature, and elucidated its mechanism. The results of the study     has brought a new treatment approach to disease that hasn’t had an effective treatment untill now.

CHAPLE syndrome, which is mainly a childhood disease, is still show indications during infancy. Patients refer to the doctor with a disorder that affects many systems and organs due to protein loss from the intestines. Edema around the eye area and legs due to low albumin is the chief complaint  . In addition, diarrhea, abdominal pain and vomiting as so bowel disease,  growth retardation, anemia and bone weakness are often seen. Some patients also show indications of inflammatory bowel disease. Also, the loss of antibodies that protect our bodies from microorganisms from the intestines makes them susceptible to recurrent infections. Finally, the most dangerous finding is the vascular occlusion that can occur at an early age. All these disorders impair the quality of life of the patients and cause frequent hospitalizations for albumin infusion therapy. Surgical interventions may be necessary due to intestinal obstruction, immunosuppressive drugs for inflammatory bowel disease, and immunoglobulin treatments to prevent infections. Unfortunately, despite all these treatments, patients do not find adequate healing and sometimes the disease results in severe complications.

With this discovery, the cause of CHAPLE disease is now understood. This study has shown that it is important for health to regulate the complement system very tightly, which is an element of the immune system.. Research has shown that the CD55  complement  regulatory  protein plays an extremely important role in protecting bowel health. Thanks to this breakthrough discovery, it is now understood that at least some forms of protein-losing enteropathies are a  complement  mediated disease. Another consequence of this study is that a drug (eculizumab) that is currently successfully used in the treatment of two other complicated diseases aHUS (atypical hemolytic uremic syndrome) and PNH (paroxysmal nocturnal hemoglobinuria) has also revealed a possible beneficial effect in CHAPLE disease . In the study, cells obtained from blood samples of patients were recovered from excessive buildup when treated with eculizumab in a test tube environment. These experiments provide a basis for clinical trials that will measure the efficacy of eculizumab in CHAPLE disease. We hope that children affected by this disease, particularly in our country, will soon find healing with effective anti-complement therapies.

This study has revealed how important genomics technology is in terms of diseases that have become popular in recent years. Considering multi-centered and multidisciplinary treatment of hereditary diseases, which is a social problem and is more common than Western societies due to the frequency of consanguineous marriages in our country, this publication will enable new and effective treatments for our patients to be developed and Turkish physicians and researchers to contribute to World Medicine Literature. Therefore, due to their outstanding efforts in this study and bringing  prestige to Marmara University, we congratulate Assoc. Dr. Ahmet Oğuzhan Özen  Assoc. Dr. Elif Aydıner, Assoc. Dr. Engin Tutar, Assoc. Dr. Safa Peace, Prof. Dr. Deniz Ertem, Specialist Dr. Ayça Kıykım and Instructor Dr.İsmail Öğülür and  we wish them success in their studies.