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Functional and molecular evaluation of lymphocytes
Thomas A Fleisher1, João Bosco Oliveira
1Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Department of Health and Human ServicBethesda, MD 20892, USA. tfleisher@nih.gov
Insights
Laboratory tests are crucial for diagnosing and treating immune deficiencies by evaluating lymphocyte function. This review outlines a sequential approach, from screening to advanced assays, aiding in appropriate test selection for immune disorder diagnosis.
Area of Science:
- Immunology
- Clinical Laboratory Science
- Genetics
Background:
- The laboratory is essential for assessing immune function and diagnosing/treating immune deficiencies.
- Expanded understanding of the immune system has led to a wider array of lymphocyte function tests.
- Identifying gene defects has integrated mutation analysis into clinical diagnostics for immune deficiencies.
Purpose of the Study:
- To present a sequential approach for evaluating lymphocyte function.
- To guide the appropriate selection of laboratory tests for immune deficiency evaluation.
- To review current and emerging in vitro assays for immune function testing.
Main Methods:
- A sequential testing strategy is proposed, starting with screening tests.
- More complex in vitro assays are discussed for further evaluation.
- The review references test procedures without detailing protocols.
Main Results:
- A structured approach helps in choosing appropriate laboratory tests based on initial results.
- Mutation analysis is now a key tool for diagnosing various immune deficiencies.
- Newer assays offer deeper insights into specific immune responses.
Conclusions:
- A sequential approach optimizes the evaluation of lymphocyte function.
- Advances in genetic analysis are transforming immune deficiency diagnostics.
- Future assays promise greater understanding of immune responses and related deficiencies.
Abstract:
The laboratory plays a central role in the evaluation of immune function and is critical in the diagnosis and treatment of immune deficiencies. The range of options available to evaluate lymphocyte function has expanded dramatically as our understanding of the immune system has expanded. As the choices of laboratory tests increase, so also does the need to choose testing in such a way as to appropriately direct the evaluation. Typically, this approach involves starting with screening tests and, on the basis of the results of these tests, deciding whether more sophisticated and expensive testing is warranted. The remarkable developments over the past decade leading to the identification of numerous gene defects underlying a variety of immune deficiencies has moved mutation analysis into the realm of the clinical laboratory. This information could be indispensable for immune deficiency diagnosis, prenatal screening, carrier detection, and family counseling. In this review a sequential approach to evaluating lymphocyte function is presented, starting with readily available screening tests and followed by more complex in vitro testing, including the application of newer assays. The various approaches are presented from the perspective of appropriate use and information garnered, whereas actual details of test procedures are not discussed but are referenced. The evolution of immune function testing suggests that it will continue to develop, and future assays are likely to provide even more insight into specific aspects of the immune response and be linked to immune deficiencies not yet defined.
