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.
Insights
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.
Background:
The 10 warning signs of primary immunodeficiency diseases (PID) have been promoted by various organizations in Europe and the United States to predict PID. However, the ability of these warning signs to identify children with PID has not been rigorously tested.
Objective:
The main goal of this study was to determine the effectiveness of these 10 warning signs in predicting defined PID among children who presented to 2 tertiary pediatric immunodeficiency centers in the north of England.
Methods:
A retrospective survey of 563 children who presented to 2 pediatric immunodeficiency centers was undertaken. The clinical records of 430 patients with a defined PID and 133 patients for whom detailed investigations failed to establish a specific PID were reviewed.
Results:
Overall, 96% of the children with PID were referred by hospital clinicians. The strongest identifiers of PID were a family history of immunodeficiency disease in addition to use of intravenous antibiotics for sepsis in children with neutrophil PID and failure to thrive in children with T-lymphocyte PID. With these 3 signs, 96% of patients with neutrophil and complement deficiencies and 89% of children with T-lymphocyte immunodeficiencies could be identified correctly. Family history was the only warning sign that identified children with B-lymphocyte PID.
Conclusions:
PID awareness initiatives should be targeted at hospital pediatricians and families with a history of PID rather than the general public. Our results provide the general pediatrician with a simple refinement of 10 warning signs for identifying children with underlying immunodeficiency diseases.
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