scholarly journals Flow Cytometry Applied to the Diagnosis of Primary Immunodeficiencies

2020 ◽  
Author(s):  
Mónica Martínez-Gallo ◽  
Marina García-Prat
Keyword(s):  
Flow Cytometry ◽  
Primary Immunodeficiencies

scholarly journals Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies

2020 ◽  
Vol 145 (1) ◽  
pp. 434-437.e4 ◽  
Author(s):  
Sandra Ammann ◽  
Sebastian Fuchs ◽  
Lydia Martin-Martin ◽  
Carla N. Castro ◽  
Benedikt Spielberger ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Primary Immunodeficiencies ◽  
Routine Diagnosis

scholarly journals Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies

2016 ◽  
Vol 23 (4) ◽  
pp. 254-271 ◽  
Author(s):  
Roshini S. Abraham ◽  
Geraldine Aubert
Keyword(s):  
Flow Cytometry ◽  
Primary Immunodeficiencies ◽  
Time Analysis ◽  
Functional Assays ◽  
Real Time Analysis ◽  
Prognostic Assessment ◽  
Versatile Tool ◽  
Immune Phenotyping ◽  
Evaluation And Monitoring ◽  
Disease Specific

ABSTRACTGenetic defects of the immune system are referred to as primary immunodeficiencies (PIDs). These immunodeficiencies are clinically and immunologically heterogeneous and, therefore, pose a challenge not only for the clinician but also for the diagnostic immunologist. There are several methodological tools available for evaluation and monitoring of patients with PIDs, and of these tools, flow cytometry has gained prominence, both for phenotyping and functional assays. Flow cytometry allows real-time analysis of cellular composition, cell signaling, and other relevant immunological pathways, providing an accessible tool for rapid diagnostic and prognostic assessment. This minireview provides an overview of the use of flow cytometry in disease-specific diagnosis of PIDs, in addition to other broader applications, which include immune phenotyping and cellular functional measurements.

scholarly journals Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies

2016 ◽  
Vol 83 (5) ◽  
pp. 444-449 ◽  
Author(s):  
Thomas A. Fleisher ◽  
Manisha Madkaikar ◽  
Sergio D. Rosenzweig
Keyword(s):  
Flow Cytometry ◽  
Primary Immunodeficiencies

scholarly journals Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India

2019 ◽  
Vol 10 ◽  
Author(s):  
Manisha Rajan Madkaikar ◽  
Snehal Shabrish ◽  
Manasi Kulkarni ◽  
Jahnavi Aluri ◽  
Aparna Dalvi ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Primary Immunodeficiencies

Epigenetic immune cell counting in human blood samples for immunodiagnostics

2018 ◽  
Vol 10 (452) ◽  
pp. eaan3508 ◽  
Author(s):  
Udo Baron ◽  
Jeannette Werner ◽  
Konstantin Schildknecht ◽  
Janika J. Schulze ◽  
Andargaschew Mulu ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Immune Cell ◽  
Quantitative Polymerase Chain Reaction ◽  
Human Leukocyte ◽  
Dried Blood Spots ◽  
Primary Immunodeficiencies ◽  
Cell Counting ◽  
Cell Integrity ◽  
Blood Spots ◽  
Fresh Frozen

Immune cell profiles provide valuable diagnostic information for hematologic and immunologic diseases. Although it is the most widely applied analytical approach, flow cytometry is limited to liquid blood. Moreover, either analysis must be performed with fresh samples or cell integrity needs to be guaranteed during storage and transport. We developed epigenetic real-time quantitative polymerase chain reaction (qPCR) assays for analysis of human leukocyte subpopulations. After method establishment, whole blood from 25 healthy donors and 97 HIV+ patients as well as dried spots from 250 healthy newborns and 24 newborns with primary immunodeficiencies were analyzed. Concordance between flow cytometric and epigenetic data for neutrophils and B, natural killer, CD3+ T, CD8+ T, CD4+ T, and FOXP3+ regulatory T cells was evaluated, demonstrating substantial equivalence between epigenetic qPCR analysis and flow cytometry. Epigenetic qPCR achieves both relative and absolute quantifications. Applied to dried blood spots, epigenetic immune cell quantification was shown to identify newborns suffering from various primary immunodeficiencies. Using epigenetic qPCR not only provides a precise means for immune cell counting in fresh-frozen blood but also extends applicability to dried blood spots. This method could expand the ability for screening immune defects and facilitates diagnostics of unobservantly collected samples, for example, in underdeveloped areas, where logistics are major barriers to screening.

scholarly journals Flow Cytometric Approach in the Diagnosis of Primary Immunodeficiencies

2021 ◽  
Author(s):  
Sevil Oskay Halacli
Keyword(s):  
Flow Cytometry ◽  
Protein Expression ◽  
Adaptive Immune System ◽  
Primary Immunodeficiencies ◽  
Cellular Functions ◽  
Adaptive Immune ◽  
Flow Cytometric ◽  
Protein Expressions ◽  
And Function

Primary Immunodeficiencies (PIDs) compose of a large spectrum of diseases characterized by abrogated or dysregulated functions of innate and adaptive immune system components that cause susceptibility to recurrent infections, autoimmunity, neoplasia/malignancy and dysfunction of organs and skeletal system. PIDs are also evaluated as molecular diseases due to the mutations in one or more genes. That affects transcripts and protein expressions as well as their functions. Today, 430 different genes are known to have various functional effects which are related to 403 different PIDs. Analyzing the effects of the mutations on relevant protein expression and function is significant to diagnose and the follow-up of the PIDs. Application of flow cytometry for analyzing protein expression levels and functions in immune cells as well as investigating the cellular functions tender a rapid, quantitative and reliable approach to identify and to prove the genetic background of PIDs. Therefore, the use of flow cytometry aids to have a large spectrum of data from gene to function and from function to clinical relevance in the first-step and differantial diagnosis of PIDs.

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