Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases)

  • Annely M. Richardson
  • Ann M. Moyer
  • Linda Hasadsri
  • Roshini S. Abraham
Immune Deficiency and Dysregulation (DP Huston and C Kuo, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Immune Deficiency and Dysregulation


Purpose of Review

The purpose of this review is to provide an overview of diagnostic testing in primary immunodeficiency and immune dysregulatory disorders (PIDDs), particularly focusing on flow cytometry and genetic techniques, utilizing specific examples of PIDDs.

Recent Findings

Flow cytometry remains a vital tool in the diagnosis and monitoring of immunological diseases. Its utility ranges from cellular analysis and specific protein quantitation to functional assays and signaling pathway analysis. Mass cytometry combines flow cytometry and mass spectrometry to dramatically increase the throughput of multivariate single-cell analysis. Next-generation sequencing in combination with other molecular techniques and processing algorithms has become more widely available and identified the diverse and heterogeneous genetic underpinnings of these disorders.


As the spectrum of disease is further clarified by increasing immunological, genetic, and epigenetic knowledge, the careful application of these diagnostic tools and bioinformatics will assist not only in our understanding of these complex disorders, but also enable the implementation of personalized therapeutic approaches for disease management.


Flow cytometry Genomics Primary immunodeficiencies Immune dysregulatory diseases Mass cytometry Diagnostic immunology 


Compliance with Ethical Standards

Conflict of Interest

The authors declare no conflicts of interest relevant to this manuscript.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Annely M. Richardson
    • 1
  • Ann M. Moyer
    • 2
  • Linda Hasadsri
    • 2
  • Roshini S. Abraham
    • 2
  1. 1.Division of Allergic Diseases, Department of MedicineMayo ClinicRochesterUSA
  2. 2.Department of Laboratory Medicine and PathologyMayo ClinicRochesterUSA

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