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Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management
Joshua M Tobin1, Megan A Cooper1
1Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, 63119.
Journal of Human Immunity
|August 22, 2025
Summary
Inborn errors of immunity (IEI) often mimic rheumatic diseases, requiring early recognition. Genetic testing is crucial for diagnosing IEI and personalizing treatment to improve patient outcomes.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Inborn errors of immunity (IEI) are genetic immune system disorders.
- IEI frequently manifest as autoimmune or autoinflammatory conditions.
- Patients often seek rheumatologic care before an IEI diagnosis.
Purpose of the Study:
- To review IEI presenting with rheumatologic and autoimmune complications.
- To emphasize the importance of recognizing IEI in rheumatology evaluations.
- To highlight the role of genetic testing in diagnosis and treatment.
Main Methods:
- Literature review of IEI with rheumatologic manifestations.
- Analysis of diagnostic pathways for IEI.
- Discussion of genetic testing utility in personalized medicine.
Main Results:
- IEI can present with diverse rheumatologic symptoms, mimicking common autoimmune diseases.
- Early identification of IEI is critical for appropriate management.
- Genetic testing enables precise molecular diagnosis and tailored therapies.
Conclusions:
- Rheumatologists play a key role in identifying potential IEI cases.
- Genetic diagnosis of IEI guides personalized treatment strategies.
- Improved understanding and recognition of IEI enhance patient prognoses.
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