A Report from Iranian Primary Immunodeficiency Registry (IPIDR), New Trend in Diagnosis of PID

Introduction: Primary immunodeficiency disorders (PID) are rare and heterogeneous group of disease. In attempts to ad- dress and to provide an estimate of the precise prevalence of these disorders in Iran, the Iranian Primary Immunodeficiency Registry (IPIDR) was established in 1999. The Registry is currently being expanded and is a part of IAARI (Immunolo- gy, Asthma & Allergy Research Institute). Method: During (2006-2013), 1857 patients who were re- ferred to IAARI with possible diagnosis of PID were enrolled in this study.Primary and advanced screening tests were done and after confirmation of diagnosis all patients registered in IPIDR (Ipidr.tums.ac.ir) Results: fifty hundred and sixty-five patients (354 M/211F) had definite or probable diagnosis of PID; Consanguinity rate and family history of previous child with PID were 58% and 24.6%, respectively. Genetic studies were done in 50.8% of patients and in 37.3% of them specific mutation was found. The most com- mon form of immunodeficiency was congenital defects of phagocyte number, function, or both. (43.5%), mainly chronic granulomatous disease, followed by Well-defined syndromes with immunodeficiency (32.6%), predominantly antibody disor- ders (16%), combined immunodeficiencies (9.7%), Comple- ment deficiencies (8.8%), Diseases of immune dysregulation (7.2%) and defects of innate immunity (2.1%) Conclusion: Recent development in molecular diagnosis can help in early and definite diagnosis of PID. Accurate diagnosis of these conditions are essential for eval uation of PID burden , better decision in prevention and treatment strategies and research studies A Report from Iranian Primary Immunodeficiency Registry (IPIDR), New Trend in Diagnosis of PID (PDF Download Available). Available from: https://www.researchgate.net/publication/268280484_A_Report_from_Iranian_Primary_Immunodeficiency_Registry_IPIDR_New_Trend_in_Diagnosis_of_PID [accessed Jun 20, 2017].