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Incorrect diagnoses in patients with neutralizing anti-interferon-gamma-autoantibodies
Summary
Diagnosing immunodeficiency due to anti-interferon-gamma autoantibodies is challenging. Early recognition requires awareness of specific clinical clues like bone lesions and leukocytosis to avoid incorrect treatments.
Area of Science:
- Immunology
- Infectious Diseases
- Clinical Medicine
Background:
- Adult-onset immunodeficiency linked to neutralizing anti-interferon-gamma autoantibodies (anti-IFNγ Abs) presents diagnostic challenges due to a non-specific phenotype and lack of routine testing.
- Early identification is crucial to prevent delayed or incorrect management.
Purpose of the Study:
- To investigate factors contributing to misdiagnoses in patients with anti-IFNγ Abs.
- To identify clinical indicators for earlier recognition of this condition.
Main Methods:
- Retrospective analysis of adult patients with unexplained opportunistic infections across six hospitals.
- Comparison of demographic, clinical, laboratory, and treatment data between patients with and without neutralizing anti-IFNγ Abs.
Main Results:
- Neutralizing anti-IFNγ Abs were found in 71% of patients with disseminated non-tuberculous mycobacterial infection (dNTM).
- Median time to diagnosis was 1.6 years, with many patients receiving inappropriate treatments like anti-tuberculosis drugs or immunosuppressants.
- Patients with anti-IFNγ Abs were more likely to have multiple bone lesions and leukocytosis.
Conclusions:
- A high rate of incorrect tentative diagnoses leads to inappropriate management in patients with anti-IFNγ Abs.
- Increased clinician awareness of specific clinical signs is essential for timely diagnosis and appropriate treatment.
