Primary immunodeficiency: Overview of management
- Francisco A Bonilla, MD, PhD
Francisco A Bonilla, MD, PhD
- Section Editor — Immunology and Immunodeficiency
- Associate Professor of Pediatrics
- Harvard Medical School
- Section Editor
- E Richard Stiehm, MD
E Richard Stiehm, MD
- Editor-in-Chief — Allergy and Immunology
- Section Editor — Immunology and Immunodeficiency
- Distinguished Research Professor of Pediatrics
- David Geffen School of Medicine at UCLA
The prevalence of primary immunodeficiency (PID) is estimated at approximately 1 in 2000 live births, and more than 300 distinct disorders have been identified [1,2]. The molecular defects underlying many of these disorders are now understood . Each year, new disorders are identified, and milder variants of known PIDs are recognized in patients surviving into adolescence and adulthood. A number of new medical therapies have provided dramatic improvements in life expectancy and quality of life for immunodeficient individuals, and their care is becoming increasingly complex.
The management of patients with PID begins with early identification and diagnosis. Families with affected children require counseling about the risk of the same disorder occurring in future children. If an affected pregnancy is identified, measures to prevent infection and plan for curative therapies begin at birth. Topics related to detection and diagnosis of PID are found separately:
●(See "Syndromic immunodeficiencies".)
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- EARLY INVOLVEMENT OF AN EXPERT
- Resources for clinicians and patients
- ISSUES OF IMMEDIATE IMPORTANCE FOR NEWBORNS AND INFANTS
- Caution with blood products
- Safe vaccination
- CONFIRMATION OF THE DIAGNOSIS
- INFECTION PREVENTION AND TREATMENT
- ANTIMICROBIAL THERAPY
- Treating acute infections
- Prophylactic antimicrobial therapy
- - Representative regimens
- - Prevention of Pneumocystis jirovecii pneumonia
- Immune globulin replacement
- Specialized immune globulins
- BIOLOGIC THERAPIES
- IMMUNE RECONSTITUTION
- Hematopoietic cell transplantation
- Gene therapy
- VIGILANCE FOR ASSOCIATED DISORDERS
- OTHER ISSUES
- Health maintenance
- Mental and emotional health
- Dental care
- Audiologic care
- GENETIC COUNSELING
- SUMMARY AND RECOMMENDATIONS