Flow Cytometry Assays in Primary Immunodeficiency Diseases.

Area of Science:

• Immunology
• Genetics
• Medical Diagnostics

Background:

• Primary immunodeficiency diseases (PIDs) stem from genetic defects impairing immune system development or function.
• Over 100 new PIDs have been classified since 2011, driven by advancements in genomic technologies.
• Genetic mutations are the definitive diagnostic marker, but DNA sequencing can be time-consuming.

Purpose of the Study:

• To review key flow cytometry procedures for diagnosing primary immunodeficiency diseases.
• To highlight rapid, specific, and cost-effective screening methods for PIDs.
• To categorize diagnostic approaches based on immune abnormalities: subset, marker, and function.

Main Methods:

• Review of four distinct flow cytometry procedures.
• Focus on screening for immune subset abnormalities.
• Focus on screening for immune marker abnormalities.
• Focus on screening for immune function abnormalities.

Main Results:

• Flow cytometry provides rapid, specific, and relatively inexpensive screening for PID-associated abnormalities.
• The reviewed procedures cover broad categories of immune dysfunction.
• These methods aid in the diagnosis of diverse genetic defects causing PIDs.

Conclusions:

• Flow cytometry is a valuable tool for the rapid diagnosis of primary immunodeficiency diseases.
• The reviewed procedures offer efficient screening for immune subset, marker, and function abnormalities.
• Advancements in flow cytometry complement genomic technologies in PID diagnostics.