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Updated: Jun 28, 2026
Flow Cytometric Characterization of Murine B Cell Development
Published on: January 22, 2021
Applications of flow cytometry for the study of primary immune deficiencies
Joao B Oliveira1, Luigi D Notarangelo, Thomas A Fleisher
1Immunology Service, Department of Laboratory Medicine, National Institutes of Health, Bethesda, Maryland 20892-1508, USA.
Insights
Flow cytometry is increasingly vital for diagnosing primary immune deficiencies (PIDs). This technique aids in classifying patients, predicting outcomes, and identifying genetic defects, expanding its clinical utility.
Area of Science:
- Immunology
- Clinical Diagnostics
Background:
- Primary immune deficiencies (PIDs) encompass a diverse group of genetic disorders affecting the immune system.
- Accurate and timely diagnosis of PIDs is crucial for effective management and improved patient outcomes.
Purpose of the Study:
- To review the current applications of flow cytometry in the diagnosis and evaluation of primary immune deficiencies.
- To highlight the expanding role of flow cytometry beyond classical PIDs.
Main Methods:
- Immunophenotypic analysis of immune cells.
- Evaluation of intracellular protein expression.
- Functional assays to assess cell activity.
- Application to a broad spectrum of PIDs.
Main Results:
- Immunophenotyping provides diagnostic clues, aids in patient classification, and predicts clinical outcomes for PIDs.
- Intracellular protein evaluation serves as a useful diagnostic screening method for specific PIDs.
- Functional flow cytometry helps identify genetic defects and clarify functional abnormalities.
Conclusions:
- Flow cytometry's utility in diagnosing PIDs has significantly expanded, including antibody deficiencies, severe combined immune deficiency, and Mendelian susceptibility to mycobacterial disease.
- It serves as a valuable screening tool for toll-like receptor pathway defects and immune dysregulation syndromes.
- Flow cytometry is effective in evaluating X-linked lymphoproliferative syndrome and familial hemophagocytic lymphohistiocytosis.
Purpose Of Review:
This review focuses on the current applications of flow cytometry for the diagnosis and evaluation of primary immune deficiencies (PIDs).
Recent Findings:
The immunophenotypic evaluation of selected PIDs provides diagnostic clues as well as information useful to classify patients and predict clinical outcome. In addition, the evaluation of intracellular proteins associated with selected PIDs has evolved as a useful diagnostic screening method. Finally, functional flow cytometry can now help to clarify possible sites of genetic defects associated with specific PIDs.
Summary:
The range of PIDs in which flow cytometry has proven to be useful from a clinical and diagnostic purpose has significantly expanded. This now includes not only patients presenting with clinical histories consistent with classical antibody deficiencies and severe combined immune deficiency, but also patients with more limited infectious histories. Included among these are patients with genetic defects associated with Mendelian susceptibility to mycobacterial disease focusing the evaluation on specific surface protein expression and cell function analysis. In addition, flow cytometry appears to provide a useful screening approach to evaluate for possible toll-like receptor-pathway defects. Furthermore, immunophenotyping and intracellular flow cytometry have proven to be valuable discriminators in the evaluation of patients with immune dysregulation syndromes including immune dysregulation, polyendocrinopathy, enteropathy, X-linked, and autoimmune lymphoproliferative syndrome. Finally, flow cytometry has been shown to be useful to screen patients with possible X-linked lymphoproliferative syndrome and familial hemophagocytic lymphohistiocytosis.
