Flow Cytometry-Based Diagnosis for Inborn Errors of Immunity

Flow Cytometry-based Diagnosis for Inborn Errors of Immunity addresses the need for a practical, comprehensive reference on applying flow cytometry to the diagnosis, classification, characterization, and prognostic evaluation of inborn errors of immunity (IEI). As flow cytometry becomes central to identifying and characterizing IEI, clinical immunologists and basic immunology researchers require an accessible resource that bridges fundamental principles with disease-specific diagnostic applications, alongside guidance valuable to laboratory professionals, students, and early-career practitioners.

The reference covers flow cytometry principles, emerging technologies, technical considerations, and quality standards, alongside a framework for classifying IEI, before turning to practical diagnostic approaches for major disease categories. Protocols, diagnostic algorithms, immunophenotyping strategies, and functional assays demonstrate how flow cytometry rapidly identifies cellular and functional abnormalities to support diagnosis, while addressing its complementary role alongside molecular testing, narrowing candidate diagnoses, guiding genetic testing, and confirming genetic findings. Discussion of predictive and prognostic markers and international clinical experience extends its relevance across high-resource and resource-limited settings.

Flow Cytometry-based Diagnosis for Inborn Errors of Immunity equips clinicians, laboratory professionals, and researchers with the knowledge and tools to translate flow cytometric findings into accurate diagnosis and informed patient care, strengthening the diagnostic pathway for IEI.

• Provides disease-specific diagnostic algorithms, protocols, and practical strategies for immunophenotyping, functional assessment, and diagnosis of IEI
• Demonstrates how flow cytometry complements molecular testing by narrowing candidate diagnoses, guiding genetic testing, and confirming genetic findings
• Highlights flow cytometry as a rapid, cost-effective, and accessible tool for IEI diagnosis, including in resource-limited settings
• Covers technical considerations, quality standards, emerging technologies, and predictive and prognostic indicators
• Presents international experience applying flow cytometry to IEI diagnosis