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

Alex Wonnaparhown; Matthew Farley; Holly Miller; Charlotte Cunningham-Rundles; Catherine Freeman; Jacqueline Squire; Talal Hilal; Allison Rosenthal

doi:10.1016/j.jacig.2025.100503

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	100503
Journal	Journal of Allergy and Clinical Immunology: Global
Volume	4
Issue number	3
DOIs	https://doi.org/10.1016/j.jacig.2025.100503
State	Published - Aug 2025

Keywords

Marginal zone lymphoma
activated phosphoinositide 3-kinase delta syndrome
case report
genomics
primary immunodeficiency

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10.1016/j.jacig.2025.100503

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title = "Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)",

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.",

keywords = "Marginal zone lymphoma, activated phosphoinositide 3-kinase delta syndrome, case report, genomics, primary immunodeficiency",

author = "Alex Wonnaparhown and Matthew Farley and Holly Miller and Charlotte Cunningham-Rundles and Catherine Freeman and Jacqueline Squire and Talal Hilal and Allison Rosenthal",

note = "Publisher Copyright: {\textcopyright} 2025 The Author(s)",

year = "2025",

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doi = "10.1016/j.jacig.2025.100503",

language = "English",

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journal = "Journal of Allergy and Clinical Immunology: Global",

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T1 - Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)

AU - Wonnaparhown, Alex

AU - Farley, Matthew

AU - Miller, Holly

AU - Cunningham-Rundles, Charlotte

AU - Freeman, Catherine

AU - Squire, Jacqueline

AU - Hilal, Talal

AU - Rosenthal, Allison

PY - 2025/8

Y1 - 2025/8

N2 - 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.

AB - 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.

KW - Marginal zone lymphoma

KW - activated phosphoinositide 3-kinase delta syndrome

KW - case report

KW - genomics

KW - primary immunodeficiency

UR - https://www.scopus.com/pages/publications/105007784905

U2 - 10.1016/j.jacig.2025.100503

DO - 10.1016/j.jacig.2025.100503

M3 - Article

AN - SCOPUS:105007784905

SN - 2772-8293

VL - 4

JO - Journal of Allergy and Clinical Immunology: Global

JF - Journal of Allergy and Clinical Immunology: Global

IS - 3

M1 - 100503

ER -

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

Abstract

Keywords

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