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Review
. 2016 May;83(5):444-9.
doi: 10.1007/s12098-015-2011-0. Epub 2016 Feb 11.

Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies

Thomas A Fleisher  1 , Manisha Madkaikar  2 , Sergio D Rosenzweig  3
Affiliations
Review

Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies

Thomas A Fleisher et al. Indian J Pediatr. 2016 May.

Abstract

Primary immunodeficiency disorders (PIDDs) are a heterogeneous group of inherited disorders of the immune system. Currently more than 250 different PIDDs with a known genetic defect have been recognized. The diagnosis of many of these disorders is supported strongly by a wide variety of flow cytometry applications. Flow cytometry offers a rapid and sensitive tool for diagnosis and classification of PIDDs. It is applicable in the initial workup and subsequent management of several primary immunodeficiency diseases. As our understanding of the pathogenesis and management of these diseases increases, the majority of these tests can be easily established in the diagnostic laboratory. Thus, the focus of this article is on the application of flow cytometry in the diagnosis and/or evaluation of PIDDs.

Keywords: Diagnosis; Flow cytometry; Primary immunodeficiency.

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Conflict of interest statement

Declaration on competing interests: Nil

Figures

Figure 1
Figure 1
immunophenotypic characteristics of SCID based on T, B and NK cell distribution with associated defects. [PNP: Purine nucleoside phosphorylase; ADA: Adenosine deaminase deficiency].
Figure 2
Figure 2
flow cytometric dot plot of a control subject and a patient with congenital X-linked agammaglobulinemia demonstrating marked decrease in circulating B cells
Figure 3
Figure 3
Flow cytometric histograms demonstrating the expression of IFNγR on monocytes from a control subject, a patient with an autosomal recessive IFNγR1 defect (Patient A) and a patient with an autosomal dominant IFNγR1 defect (Patient B).
Figure 4
Figure 4
Flow cytometric histograms from a control subject and a patient with leukocyte adhesion deficiency (LAD) type1 demonstrating markedly diminished CD18 expression on neutrophils
Figure 5
Figure 5
DHR flow cytometry assay histograms demonstrating the change (or lack thereof) in fluorescence in neutrophils following PMA stimulation in a control subject (panel A), a patient with autosomal recessive (p47 phox) CGD (panel B), a patient with X-linked recessive (gp91 phox) recessive CGD (panel C) and a X-linked carrier (panel D). The dashed line shows the background fluorescence of unstimulated neutrophils
See this image and copyright information in PMC

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