Clinical features that identify children with primary immunodeficiency diseases
Anbezhil Subbarayan1, Gloria Colarusso, Stephen M Hughes
1Department of Paediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, United Kingdom.
Pediatrics
|April 13, 2011
Summary
The 10 warning signs effectively identify primary immunodeficiency diseases (PID) in children, especially when combined with family history and specific clinical indicators like failure to thrive. Targeted awareness efforts for pediatricians and families are recommended.
Area of Science:
- Pediatric Immunology
- Clinical Diagnostics
- Disease Prediction
Background:
- The 10 warning signs for primary immunodeficiency diseases (PID) are widely promoted but their predictive accuracy in children lacks rigorous testing.
- Assessing the diagnostic utility of established PID warning signs is crucial for early identification.
Purpose of the Study:
- To evaluate the effectiveness of the 10 warning signs in identifying defined PID in children presenting to specialized centers.
- To refine diagnostic strategies for pediatric primary immunodeficiency.
Main Methods:
- Retrospective analysis of 563 children's records from two tertiary pediatric immunodeficiency centers.
- Inclusion of 430 patients with confirmed PID and 133 with undiagnosed conditions.
Main Results:
- A family history of immunodeficiency, IV antibiotic use for sepsis (neutrophil PID), and failure to thrive (T-lymphocyte PID) were strong predictors.
- These indicators identified 96% of neutrophil/complement deficiencies and 89% of T-lymphocyte immunodeficiencies.
- Family history was the sole indicator for B-lymphocyte PID.
Conclusions:
- PID awareness campaigns should focus on hospital pediatricians and at-risk families, not the general public.
- A refined set of warning signs can aid pediatricians in identifying children with potential immunodeficiency.
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