Genetic Causes of Primary Immunodeficiency Disorders in Omani Patients

Primary immunodeficiencies (PID) are a heterogeneous group of disorders that affect different components and functions of the immune system. They are mostly inherited by single gene defect. They are considered rare group of diseases however they are expected to be more common in countries with high consanguinity rate. The prevalence of PID in Oman is estimated to be 4.5/100000, (previous work by PI). Genetic defects are increasingly identified in patients with inherited disorders for better diagnosis, counseling and future gene therapy; some diseases are already treated by gene therapy. Genetic analysis of primary immunodeficiency diseases in Oman may add novel genetic defects to the existing knowledge available from different countries which will help in diagnosis and counseling of patients from other countries as well as Oman. Inherited disorders in general are common in Middle Eastern countries because of customary consanguineous marriages. Knowing the genetic defects for the various clinical phenotypes of immunodeficiency that are more prevalent in Oman will help physicians to manage and counsel patients and families with these disorders. Furthermore it is going to stand a basis for future customized genetic testing and future gene therapy. This study will identify the genetic defects underlying the different clinical phenotypes of primary immunodeficiency in Oman. It will identify single gene defects by examining the sequence of genes responsible for immunodeficiency disease. It will highlight mutation types and mode of inheritance, further more it may discover new genes causing primary immunodeficiency.