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Primary atopic disorders: inborn errors of immunity causing severe allergic disease
Maryam Vaseghi-Shanjani1, Simran Samra1, Pariya Yousefi2
1Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, BC, Canada.
Current Opinion in Immunology
|February 28, 2025
Summary
Primary atopic disorders (PADs) result from single-gene defects causing severe allergic diseases. Understanding these genetic causes is crucial for diagnosis and treatment.
Area of Science:
- Immunology
- Genetics
- Dermatology
Background:
- Allergic diseases like asthma and eczema involve immune dysregulation and environmental factors.
- Genetic contributions to allergies are increasingly recognized, extending beyond common polygenic forms.
- Single-gene defects can cause severe allergic conditions, termed primary atopic disorders (PADs).
Purpose of the Study:
- To review the significance and pathogenesis of primary atopic disorders (PADs).
- To outline clinical and diagnostic strategies for identifying PADs.
- To differentiate PADs from common multifactorial allergic diseases.
Main Methods:
- Literature review of genetic defects causing primary atopic disorders.
- Analysis of biological pathways implicated in PAD pathogenesis.
- Synthesis of clinical and diagnostic approaches for PADs.
Main Results:
- Over 48 single-gene defects are known to cause PADs.
- PADs involve dysregulated immune responses, Th2 inflammation, and barrier dysfunction.
- Distinct clinical and diagnostic features help differentiate PADs from polygenic allergies.
Conclusions:
- Primary atopic disorders represent a distinct category of severe allergic diseases.
- Understanding the genetic basis of PADs is essential for accurate diagnosis.
- Targeted diagnostic and clinical strategies are needed for effective PAD management.
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