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The Fas-mediated apoptosis assay: From concept to clinical application

Jack Bleesing1

  • 1Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Journal of Immunological Methods
|January 28, 2025
PubMed

Insights

Abnormal lymphocyte homeostasis, a hallmark of Inborn Errors of Immunity (IEoI), can be assessed using in vitro apoptosis assays. This review details these assays, focusing on Fas-mediated apoptosis for Autoimmune Lymphoproliferative Syndrome (ALPS).

Area of Science:

  • Immunology
  • Cell Biology
  • Genetics

Background:

  • Abnormal lymphocyte homeostasis is a key feature in several Inborn Errors of Immunity (IEoI).
  • In vitro apoptosis assays are crucial for evaluating lymphocyte homeostasis, reflecting specific cellular programs, pathways, and protein functions.
  • Understanding these mechanisms is vital for diagnosing and managing immune deficiencies.

Purpose of the Study:

  • To review lymphocyte homeostasis programs, pathways, and proteins relevant to Inborn Errors of Immunity.
  • To describe the development and application of the in vitro Fas-mediated apoptosis assay for Autoimmune Lymphoproliferative Syndrome (ALPS).
  • To discuss other lymphocyte homeostasis disorders in the context of various in vitro apoptosis assessments.

Main Methods:

  • Literature review of apoptosis assays and lymphocyte homeostasis mechanisms.
  • Focus on Fas-mediated apoptosis assays for Autoimmune Lymphoproliferative Syndrome (ALPS) diagnosis.
  • Comparative analysis of different in vitro apoptosis assessment methods for various IEoI.

Main Results:

  • Specific apoptosis assays provide insights into lymphocyte homeostasis defects in IEoI.
  • The Fas-mediated apoptosis assay is a valuable tool for diagnosing Autoimmune Lymphoproliferative Syndrome (ALPS).
  • Diverse in vitro apoptosis assessments can characterize other disorders affecting lymphocyte homeostasis.

Conclusions:

  • In vitro apoptosis assays are essential for understanding and diagnosing Inborn Errors of Immunity related to lymphocyte homeostasis.
  • Fas-mediated apoptosis assays offer a specific diagnostic approach for Autoimmune Lymphoproliferative Syndrome (ALPS).
  • Further research into various apoptosis pathways can elucidate other lymphocyte homeostasis disorders.

Keywords:
Autoimmune lymphoproliferative syndromeCytokine-withdrawal cell deathFas-mediated apoptosisLymphocyte homeostasisRas-associated leukoproliferative disorderRestimulation-induced cell death

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