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Evolving Approach to Clinical Cytometry for Immunodeficiencies and Other Immune Disorders
Amir A Sadighi Akha1, Krisztián Csomós2, Boglárka Ujházi2
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Immunology and Allergy Clinics of North America
|April 26, 2025
Summary
Inborn errors of immunity, previously primary immunodeficiencies, can present with diverse symptoms beyond infections. This study explores using the CD21low B cell subset to enhance diagnostic capabilities for these complex immune system disorders.
Area of Science:
- Immunology
- Genetics
- Clinical Medicine
Background:
- Primary immunodeficiencies (PIDs) were historically defined by recurrent infections.
- PIDs are now recognized as inborn errors of immunity (IEIs) with broader manifestations including autoimmunity, autoinflammation, allergy, lymphoproliferation, and malignancy.
- Advances in laboratory techniques, particularly flow cytometry, offer opportunities to refine diagnostic approaches for IEIs.
Purpose of the Study:
- To demonstrate how evolving diagnostic approaches can mirror the conceptual shift in understanding inborn errors of immunity.
- To highlight the utility of specific B cell subsets in improving laboratory tests for IEIs.
Main Methods:
- Utilized flow cytometry to analyze B cell subsets.
- Focused on the CD21low B cell subset, also known as age-associated B cells or T-bet+ B cells, as a model for demonstrating enhanced diagnostic utility.
Main Results:
- The study successfully used the CD21low B cell subset as an example to illustrate the potential for expanding or modifying existing laboratory tests.
- This approach supports the conceptual change in viewing PIDs as IEIs with diverse clinical presentations.
Conclusions:
- The CD21low B cell subset serves as a valuable model for adapting laboratory diagnostics to the broader spectrum of inborn errors of immunity.
- Ongoing advancements in flow cytometry can enhance the scope and utility of diagnostic tests for IEIs, aligning with current conceptual understanding.
