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Case Reports
. 2025 May 26;4(3):100503.
doi: 10.1016/j.jacig.2025.100503. eCollection 2025 Aug.

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

Alex Wonnaparhown  1 , Matthew Farley  1 , Holly Miller  2 , Charlotte Cunningham-Rundles  3 , Catherine Freeman  1 , Jacqueline Squire  4 , Talal Hilal  5 , Allison Rosenthal  5
Affiliations
Case Reports

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

Alex Wonnaparhown et al. J Allergy Clin Immunol Glob. .

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.

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Conflict of interest statement

Supported in part by generous Paula and Roger Riney Foundation funding and in part by generous funding from additional philanthropic donations to the 10.13039/100000871Mayo Clinic, as well as by the 10.13039/100000054National Cancer Institute (grant U01CA271410). Publication fees are supported by the 10.13039/100000871Mayo Clinic Hematological Malignancies Program. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.

Figures

Fig 1
Fig 1
PET-CT scans before and after treatment with rituximab. Before (left) and after (right) treatment with rituximab and sirolimus shows resolved rectal uptake and decreased spleen size.
See this image and copyright information in PMC

References

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