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

ABSTRACT:

Background

Patients 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 manifestations, but these are not often reported as presenting symptoms. As a result, IEIs may be overlooked in patients presenting with early and/or recalcitrant cytopenias. Here, we describe the diagnostic journey and management of three patients who presented to a pediatric hematologist/oncologist with early-onset or recalcitrant cytopenias and were ultimately diagnosed with APDS.

Case presentations

Patients presented with early-onset and/or refractory cytopenias, with two of

SUBMITTER: Remiker AS 

PROVIDER: S-EPMC11632462 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature