EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review
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 manifes...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1583405/full |
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| author | Qiu-yuan Xiang Min Zuo Ji-Hao Zhou Chun Feng |
| author_facet | Qiu-yuan Xiang Min Zuo Ji-Hao Zhou Chun Feng |
| author_sort | Qiu-yuan Xiang |
| collection | DOAJ |
| description | 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 EBV-driven lymphomagenesis, thereby further supporting the critical role of PI3K δ pathway dysregulation in promoting EBV-associated lymphoid malignancies. |
| format | Article |
| id | doaj-art-9dc62eeac1aa4e439e1361575579b26c |
| institution | DOAJ |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-9dc62eeac1aa4e439e1361575579b26c2025-08-20T02:39:19ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-05-011610.3389/fimmu.2025.15834051583405EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature reviewQiu-yuan Xiang0Min Zuo1Ji-Hao Zhou2Chun Feng3Department of Hematology, The Second Clinical Medical College of Jinan University, Shenzhen, ChinaDepartment of Pathology, Shenzhen People’s Hospital (The Second Clinical Medical College of Jinan University; The First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, ChinaDepartment of Hematology, Shenzhen People’s Hospital (The Second Clinical Medical College of Jinan University; The First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, ChinaDepartment of Hematology, Shenzhen People’s Hospital (The Second Clinical Medical College of Jinan University; The First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, ChinaActivated 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 EBV-driven lymphomagenesis, thereby further supporting the critical role of PI3K δ pathway dysregulation in promoting EBV-associated lymphoid malignancies.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1583405/fullactivated phosphoinositide 3-kinase δ syndromeEpstein-Barr virusdiffuse large B-cell lymphomaEpstein-Barr virus-positive diffuse large B-cell lymphoma (EBV+ DLBCL)inborn error of immunity |
| spellingShingle | Qiu-yuan Xiang Min Zuo Ji-Hao Zhou Chun Feng EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review Frontiers in Immunology 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 |
| title | EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review |
| title_full | EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review |
| title_fullStr | EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review |
| title_full_unstemmed | EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review |
| title_short | EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review |
| title_sort | ebv positive diffuse large b cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 apds1 a case report and literature review |
| topic | 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 |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1583405/full |
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