CASE REPORT article
Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1583405
EBV-positive Diffuse Large B Cell Lymphoma Secondary to Activated Phosphoinositide 3 Kinase δ Syndrome Type 1 (APDS1): A Case Report and Literature Review
Provisionally accepted
- 1Department of Hematology, Shenzhen People's Hospital, Jinan University, Shenzhen, China
- 2Department of Pathology, Shenzhen People's Hospital, Jinan University, Shenzhen, China
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Activated phosphoinositide 3-kinase δ syndrome (APDS), an inborn error of immunity associated with gain-of-function mutations in the PIK3CD gene, is characterized by dysregulated PI3Kδ signaling. The clinical spectrum commonly includes recurrent respiratory infections and lymphoproliferative manifestations. We present an adolescent male with APDS1 manifesting recurrent sinopulmonary infections, generalized lymphadenopathy, hepatosplenomegaly, gastrointestinal manifestations, and combined T-cell/B-cell lymphopenia, complicated by Epstein-Barr virus-positive diffuse large B-cell lymphoma (EBV+ DLBCL). Whole-exome sequencing identified a heterozygous PIK3CD variant (c.3061G>A p.Glu1021Lys), supporting the molecular diagnosis of APDS1. This case adds to emerging evidence linking APDS1 with EBVdriven lymphomagenesis, thereby further supporting the critical role of PI3K δ pathway dysregulation in promoting EBV-associated lymphoid malignancies.
Keywords: activated phosphoinositide 3-kinase δ syndrome, Epstein-Barr virus, Diffuse large B-cell lymphoma, Epstein-Barr virus-positive diffuse large B-cell lymphoma (EBV+ DLBCL), Inborn error of immunity
Received: 25 Feb 2025; Accepted: 11 Apr 2025.
Copyright: © 2025 Xiang, Zuo, Zhou and Feng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ji-Hao Zhou, Department of Hematology, Shenzhen People's Hospital, Jinan University, Shenzhen, China
Chun Feng, Department of Hematology, Shenzhen People's Hospital, Jinan University, Shenzhen, China
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