Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome

Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome

BackgroundPatients with recurrent, chronic, or refractory cytopenias represent a challenging subgroup that may harbor an underlying diagnosis, such as an inborn error of immunity (IEI). Patients with IEIs such as activated phosphoinositide 3-kinase delta syndrome (APDS), frequently have hematologic...

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Main Authors: Allison S. Remiker, Joao Pedro Matias Lopes, Rohith Jesudas, Alexandra Superdock, Nami Park, Irina Pateva
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Pediatrics
Subjects:
recalcitrant cytopenias
early-onset cytopenias
inborn error of immunity
activated PI3Kδ syndrome
case series
genetic testing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1494945/full
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https://www.frontiersin.org/articles/10.3389/fped.2024.1494945/full

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