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

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.

Saved in:
Bibliographic Details
Main Authors: Alex Wonnaparhown, MD, Matthew Farley, MD, Holly Miller, DO, Charlotte Cunningham-Rundles, MD, Catherine Freeman, MBBCh, Jacqueline Squire, MD, Talal Hilal, MD, Allison Rosenthal, DO
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829325001043
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849774446900936704
author Alex Wonnaparhown, MD
Matthew Farley, MD
Holly Miller, DO
Charlotte Cunningham-Rundles, MD
Catherine Freeman, MBBCh
Jacqueline Squire, MD
Talal Hilal, MD
Allison Rosenthal, DO
author_facet Alex Wonnaparhown, MD
Matthew Farley, MD
Holly Miller, DO
Charlotte Cunningham-Rundles, MD
Catherine Freeman, MBBCh
Jacqueline Squire, MD
Talal Hilal, MD
Allison Rosenthal, DO
author_sort Alex Wonnaparhown, MD
collection DOAJ
description 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.
format Article
id doaj-art-69163d2f902e487db4c83b2a0776b88f
institution DOAJ
issn 2772-8293
language English
publishDate 2025-08-01
publisher Elsevier
record_format Article
series Journal of Allergy and Clinical Immunology: Global
spelling doaj-art-69163d2f902e487db4c83b2a0776b88f2025-08-20T03:01:41ZengElsevierJournal of Allergy and Clinical Immunology: Global2772-82932025-08-014310050310.1016/j.jacig.2025.100503Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)Alex Wonnaparhown, MD0Matthew Farley, MD1Holly Miller, DO2Charlotte Cunningham-Rundles, MD3Catherine Freeman, MBBCh4Jacqueline Squire, MD5Talal Hilal, MD6Allison Rosenthal, DO7Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Phoenix, Ariz; Corresponding author: Alex Wonnaparhown, MD, 13400 East Shea Boulevard, Scottsdale, AZ 85259.Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Phoenix, ArizCenter for Cancer and Blood Disorders, Phoenix Children's/Mayo Clinic Arizona, Phoenix, ArizDivision of Allergy and Clinical Immunology, Department of Medicine and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NYDivision of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Phoenix, ArizDivision of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Jacksonville, FlaDivision of Hematology and Medical Oncology, Mayo Clinic, Phoenix, ArizDivision of Hematology and Medical Oncology, Mayo Clinic, Phoenix, ArizActivated 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.http://www.sciencedirect.com/science/article/pii/S2772829325001043Marginal zone lymphomaprimary immunodeficiencyactivated phosphoinositide 3-kinase delta syndromegenomicscase report
spellingShingle Alex Wonnaparhown, MD
Matthew Farley, MD
Holly Miller, DO
Charlotte Cunningham-Rundles, MD
Catherine Freeman, MBBCh
Jacqueline Squire, MD
Talal Hilal, MD
Allison Rosenthal, DO
Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)
Journal of Allergy and Clinical Immunology: Global
Marginal zone lymphoma
primary immunodeficiency
activated phosphoinositide 3-kinase delta syndrome
genomics
case report
title Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)
title_full Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)
title_fullStr Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)
title_full_unstemmed Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)
title_short Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1)
title_sort refractory marginal zone lymphoma uncovers activated phosphoinositide 3 kinase delta syndrome type 1 apds1
topic Marginal zone lymphoma
primary immunodeficiency
activated phosphoinositide 3-kinase delta syndrome
genomics
case report
url http://www.sciencedirect.com/science/article/pii/S2772829325001043
work_keys_str_mv AT alexwonnaparhownmd refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT matthewfarleymd refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT hollymillerdo refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT charlottecunninghamrundlesmd refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT catherinefreemanmbbch refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT jacquelinesquiremd refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT talalhilalmd refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1
AT allisonrosenthaldo refractorymarginalzonelymphomauncoversactivatedphosphoinositide3kinasedeltasyndrometype1apds1