# Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)

**Authors:** Alex Wonnaparhown, Matthew Farley, Holly Miller, Charlotte Cunningham-Rundles, Catherine Freeman, Jacqueline Squire, Talal Hilal, Allison Rosenthal

PMC · DOI: 10.1016/j.jacig.2025.100503 · 2025-05-26

## TL;DR

A rare immune disorder called APDS1 can lead to a specific type of lymphoma, and genetic testing can help diagnose and improve treatment outcomes.

## Contribution

This study highlights the importance of genetic testing in atypical lymphoma cases to uncover underlying immunodeficiencies.

## Key findings

- Genetic testing in atypical lymphoma cases can reveal APDS1.
- Identifying APDS1 can improve clinical outcomes through targeted treatment.

## Abstract

Activated PI3K delta syndrome is a rare primary combined immunodeficiency that can present with lymphoma. Genetic testing of patients with atypical lymphoma may reveal an underlying immunodeficiency and improve clinical outcomes.

## Linked entities

- **Proteins:** PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
- **Diseases:** lymphoma (MONDO:0003659)

## Full-text entities

- **Genes:** PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) [NCBI Gene 5293] {aka APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K}
- **Diseases:** marginal zone lymphoma (MESH:D018442), immunodeficiency (MESH:D007153), lymphoma (MESH:D008223), primary combined immunodeficiency (MESH:D000081207)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12205638/full.md

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Source: https://tomesphere.com/paper/PMC12205638