Korean J Pediatr.  2004 May;47(5):475-479.

Detection and Diagnosis of Primary Immunodeficiency Diseases

• Hahn YS

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.

Keyword

Primary immunodeficiency disease; Diagnosis

MeSH Terms

Counseling
Diagnosis*
Genetics
Humans
Immune System
Prenatal Diagnosis
Primary Health Care
Quality of Life