Primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital

Area of Science:

• Clinical Immunology
• Pediatric Infectious Diseases
• Primary Immunodeficiency Diseases (PIDs)

Background:

• Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders affecting the immune system.
• Understanding the spectrum and incidence of PIDs is crucial for diagnosis and management, particularly in pediatric populations.
• Previous studies have characterized PIDs in various global regions, but data from specific tertiary referral centers are valuable.

Purpose of the Study:

• To delineate the spectrum of primary immunodeficiency diseases (PIDs) diagnosed at a major South African pediatric hospital.
• To analyze the incidence, clinical presentation, and diagnostic patterns of PIDs over a 14-year period.
• To compare PID characteristics with those reported in developed countries and identify areas for improved diagnostic timelines.

Main Methods:

• A retrospective, descriptive study design was employed.
• Data were collected from patients investigated for suspected PIDs at the Red Cross War Memorial Children's Hospital between 1983 and 1996.
• Review of the immunology service database and hospital case records formed the basis of the analysis.

Main Results:

• A total of 515 patients were investigated, with 93 diagnosed with PIDs.
• Antibody deficiencies were the most common type, accounting for 56% of diagnoses.
• Delayed diagnosis was observed, with only 60% diagnosed by age 5, and a significant mortality rate of 20%.

Conclusions:

• The PID spectrum in this cohort mirrors that of developed countries, suggesting universal patterns.
• Delayed diagnosis is a significant issue, likely contributing to increased morbidity and mortality.
• Early immunological assessment for children with recurrent or atypical infections is recommended to improve outcomes.