Korean Journal of Pediatrics 2004;47(5):475-479.
Published online May 15, 2004.
Detection and Diagnosis of Primary Immunodeficiency Diseases
Youn-Soo Hahn
Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea
1차성 면역 결핍증의 인지 및 진단
한윤수
충북대학교 의과대학 소아과학교실
Correspondence: 
Youn-Soo Hahn, Email: yshahn@med.chungbuk.ac.kr
Abstract
Primary immunodeficiency diseases result from innate defects of immune system. As a consequence, recurrent viral, bactrial, fungal, and protozoal infections of varying severity ensue. Although primary immunodeficiency diseases are relatively rare, intensive study of these disorder has expanded our understanding of immunity. Recent progress in immunobiology and genetics has identified the causes of many of the primary immunodeficiency diseases. Diagnosis and therapy can as a result be more specific and effective. Appreciation of the genetic nature of a host immunologic defect makes possible family counseling, carrier detection and prenatal diagnosis. A high index of suspicion and prompt diagnosis of patients with primary immunodeficiency diseases can led to lifesaving treatment or significant improvement in quality of life. Therefore, it is critical for the primary care provider to maintain an index of suspicion for immunodeficiency.
Key Words: Primary immunodeficiency disease, Diagnosis


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