Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study

BackgroundThe use of next-generation sequencing in inborn errors of immunity (IEI) has considerably increased the identification of novel gene variants, many of which are identified in patients without the described clinical phenotype or with variants of uncertain pathogenic significance in previous...

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Main Authors: Lucía del Pino Molina, Keren Reche Yebra, Yolanda Soto Serrano, Álvaro Clemente Bernal, Carmen L. Avendaño-Monje, J. Gonzalo Ocejo-Vinyals, Rebeca Rodríguez Pena, Eduardo López Granados
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Immunology
Subjects:
monitoring PI3K-Akt-S6 pathway
inborn errors of immunity (IEI)
activated PI3Kδ syndrome (APDS)
functional assays
flow cytometry
standardization
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1476218/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2024.1476218/full

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