{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:15:56Z","timestamp":1787026556620,"version":"build-2736575974"},"reference-count":52,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T00:00:00Z","timestamp":1746662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>\n                    Activated phosphoinositide 3-kinase \u03b4 syndrome (APDS), an inborn error of immunity associated with gain-of-function mutations in the\n                    <jats:italic>PIK3CD<\/jats:italic>\n                    gene, is characterized by dysregulated PI3K\u03b4 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\n                    <jats:italic>PIK3CD<\/jats:italic>\n                    variant (c.3061G&amp;gt;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 \u03b4 pathway dysregulation in promoting EBV-associated lymphoid malignancies.\n                  <\/jats:p>","DOI":"10.3389\/fimmu.2025.1583405","type":"journal-article","created":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T01:26:47Z","timestamp":1746667607000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase \u03b4 syndrome type 1 (APDS1): a case report and literature 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