{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T20:39:42Z","timestamp":1793047182639,"version":"4.5.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T00:00:00Z","timestamp":1640044800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100019081","name":"Science and Technology Program of Hunan Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019081","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Activated phosphoinositide 3-kinase \u03b4 syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF). APDS has a variety of clinical phenotypes, particularly recurrent respiratory infections and lymphoproliferation. Here we report a pediatric patient with APDS who presented with recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, bronchoscopy suggesting numerous nodular protrusions in the airways and a decrease in both T and B lymphocytes, and progression to plasmablastic lymphoma (PBL) after 1 year. Whole exome sequencing revealed a heterozygous mutation in the PIK3CD gene (c.3061 G&amp;gt;A p.E1021K). This is the first reported case of APDS combined with PBL and pediatricians should follow up patients with APDS regularly to be alert for secondary tumours.<\/jats:p>","DOI":"10.3389\/fimmu.2021.813261","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T23:58:04Z","timestamp":1640044684000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase \u03b4 Syndrome"],"prefix":"10.3389","volume":"12","author":[{"given":"Zexi","family":"Yin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Runying","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangling","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keke","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengguang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,12,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12706","article-title":"Activating PI3K \u03b4 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Dose-Adjusted EPOCH (Etoposide, Prednisone, Vincristine, Cyclophosphamide, and Doxorubicin) Induces Long-Term Survival in Patients With Plasmablastic Lymphoma: A Retrospective Analysis","volume":"59","author":"Dittus","year":"2018","journal-title":"Leuk Lymphoma"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15156","article-title":"Bortezomib Plus EPOCH Is Effective as Frontline Treatment in Patients With Plasmablastic Lymphoma","volume":"184","author":"Castillo","year":"2019","journal-title":"Br J Haematol"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02043","article-title":"The Treatment of Activated PI3K \u03b4 Syndrome","volume":"9","author":"Coulter","year":"2018","journal-title":"Front Immunol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"S0091","DOI":"10.1016\/j.jaci.2021.04.036","article-title":"International Retrospective Study of Allogeneic Hematopoietic Cell Transplantation for Activated PI3K-Delta 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