{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:17:56Z","timestamp":1755224276220,"version":"3.43.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,12]]},"DOI":"10.7759\/cureus.89884","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T12:40:02Z","timestamp":1755002402000},"source":"Crossref","is-referenced-by-count":0,"title":["Activated PI3K Delta Syndrome: A Case Presentation and Literature Review"],"prefix":"10.7759","author":[{"given":"Ang\u00e9lica","family":"L\u00f3pez M\u00e9ndez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Airam A","family":"Arias Villaverde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham P","family":"S\u00e1nchez L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Gloria M\u00e9ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda R","family":"Hern\u00e1ndez Zamora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alesha","family":"Ram\u00edrez Lobato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda F","family":"Aguirre Quintero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Mondrag\u00f3n Rosas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Emiliano","family":"Gonz\u00e1lez Flores","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2019.09.015","article-title":"An updated review on activated PI3 kinase delta syndrome (APDS)","volume":"7","author":"Singh A","year":"2020","unstructured":"Singh A, Joshi V, Jindal AK, Mathew B, Rawat A. An updated review on activated PI3 kinase delta syndrome (APDS). Genes Dis. 2020, 7:67-74. 10.1016\/j.gendis.2019.09.015","journal-title":"Genes Dis"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.24875\/BMHIM.23000124","article-title":"Case report on activated PI3K-delta syndrome","volume":"81","author":"Crisanto-L\u00f3pez IE","year":"2024","unstructured":"Crisanto-L\u00f3pez IE, P\u00e9rez-Arzola AA, Hern\u00e1ndez-Casta\u00f1eda Y, et al.. Case report on activated PI3K-delta syndrome. Bol Med Hosp Infant Mex. 2024, 81:245-9. 10.24875\/BMHIM.23000124","journal-title":"Bol Med Hosp Infant Mex"},{"key":"ref3","article-title":"Activated PI3K-delta syndrome: pathogenesis, clinical manifestations, diagnosis, classification, and management","volume":"3","author":"Aghamohamadi N","year":"2020","unstructured":"Aghamohamadi N, Mehrabadi AZ. Activated PI3K-delta syndrome: pathogenesis, clinical manifestations, diagnosis, classification, and management. Immunol Genet J. 2020, 3:8-15.","journal-title":"Immunol Genet J"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.03.022","article-title":"Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase \u03b4 syndrome 2: a\u00a0cohort study","volume":"138","author":"Elkaim E","year":"2016","unstructured":"Elkaim E, Neven B, Bruneau J, et al.. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase \u03b4 syndrome 2: a\u00a0cohort study. J Allergy Clin Immunol. 2016, 138:210-218.e9. 10.1016\/j.jaci.2016.03.022","journal-title":"J Allergy Clin Immunol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-019-08738-9","article-title":"Clinical, immunological, and genetic features in patients with activated PI3K\u03b4 syndrome (APDS): a systematic review","volume":"59","author":"Jamee M","year":"2020","unstructured":"Jamee M, Moniri S, Zaki-Dizaji M, et al.. Clinical, immunological, and genetic features in patients with activated PI3K\u03b4 syndrome (APDS): a systematic review. Clin Rev Allergy Immunol. 2020, 59:323-33. 10.1007\/s12016-019-08738-9","journal-title":"Clin Rev Allergy Immunol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI75746","article-title":"A human immunodeficiency caused by mutations in the PIK3R1 gene","volume":"124","author":"Deau MC","year":"2014","unstructured":"Deau MC, Heurtier L, Frange P, et al.. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014, 124:3923-8. 10.1172\/JCI75746","journal-title":"J Clin Invest"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nri.2016.93","article-title":"PI3K\u03b4 and primary immunodeficiencies","volume":"16","author":"Lucas CL","year":"2016","unstructured":"Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K. PI3K\u03b4 and primary immunodeficiencies. Nat Rev Immunol. 2016, 16:702-14. 10.1038\/nri.2016.93","journal-title":"Nat Rev Immunol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2023.06.015","article-title":"Activated phosphoinositide 3-kinase \u03b4 syndrome: update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity","volume":"152","author":"Maccari ME","year":"2023","unstructured":"Maccari ME, Wolkewitz M, Schwab C, et al.. Activated phosphoinositide 3-kinase \u03b4 syndrome: update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J Allergy Clin Immunol. 2023, 152:984-996.e10. 10.1016\/j.jaci.2023.06.015","journal-title":"J Allergy Clin Immunol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/ibd\/izae075","article-title":"NOD2 and Crohn\u2019s disease clinical practice: from epidemiology to diagnosis and therapy, rewired","volume":"31","author":"Kayali S","year":"2025","unstructured":"Kayali S, Fantasia S, Gaiani F, Cavallaro LG, de'Angelis GL, Laghi L. NOD2 and Crohn\u2019s disease clinical practice: from epidemiology to diagnosis and therapy, rewired. Inflamm Bowel Dis. 2025, 31:552-62. 10.1093\/ibd\/izae075","journal-title":"Inflamm Bowel Dis"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.00369","article-title":"Activated PI3 kinase delta syndrome: from genetics to therapy","volume":"9","author":"Michalovich D","year":"2018","unstructured":"Michalovich D, Nejentsev S. Activated PI3 kinase delta syndrome: from genetics to therapy. Front Immunol. 2018, 9:369. 10.3389\/fimmu.2018.00369","journal-title":"Front Immunol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.00543","article-title":"Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase \u03b4 syndrome: the European Society for Immunodeficiencies registry","volume":"9","author":"Maccari ME","year":"2018","unstructured":"Maccari ME, Abolhassani H, Aghamohammadi A, et al.. Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase \u03b4 syndrome: the European Society for Immunodeficiencies registry. Front Immunol. 2018, 9:543. 10.3389\/fimmu.2018.00543","journal-title":"Front Immunol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0012-9","article-title":"Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility","volume":"34","author":"Crank MC","year":"2014","unstructured":"Crank MC, Grossman JK, Moir S, et al.. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol. 2014, 34:272-6. 10.1007\/s10875-014-0012-9","journal-title":"J Clin Immunol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2021.04.010","article-title":"Infections in activated PI3K delta syndrome (APDS)","volume":"72","author":"Brodsky NN","year":"2021","unstructured":"Brodsky NN, Lucas CL. Infections in activated PI3K delta syndrome (APDS). Curr Opin Immunol. 2021, 72:146-57. 10.1016\/j.coi.2021.04.010","journal-title":"Curr Opin Immunol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1617244114","article-title":"Conformational disruption of PI3K\u03b4 regulation by immunodeficiency mutations in PIK3CD and PIK3R1","volume":"114","author":"Dornan GL","year":"2017","unstructured":"Dornan GL, Siempelkamp BD, Jenkins ML, Vadas O, Lucas CL, Burke JE. Conformational disruption of PI3K\u03b4 regulation by immunodeficiency mutations in PIK3CD and PIK3R1. Proc Natl Acad Sci U S A. 2017, 114:1982-7. 10.1073\/pnas.1617244114","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2024.1337436","article-title":"Leniolisib: a novel treatment for activated phosphoinositide-3 kinase delta syndrome","volume":"15","author":"De SK","year":"2024","unstructured":"De SK. Leniolisib: a novel treatment for activated phosphoinositide-3 kinase delta syndrome. Front Pharmacol. 2024, 15:1337436. 10.3389\/fphar.2024.1337436","journal-title":"Front Pharmacol"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022018546","article-title":"A randomized, placebo-controlled phase 3 trial of\u00a0the PI3K\u03b4 inhibitor leniolisib for activated PI3K\u03b4 syndrome","volume":"141","author":"Rao VK","year":"2023","unstructured":"Rao VK, Webster S, \u0160ediv\u00e1 A, et al.. A randomized, placebo-controlled phase 3 trial of\u00a0the PI3K\u03b4 inhibitor leniolisib for activated PI3K\u03b4 syndrome. Blood. 2023, 141:971-83. 10.1182\/blood.2022018546","journal-title":"Blood"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3389\/fgeed.2022.793010","article-title":"CRISPR\/Cas-based gene editing strategies for DOCK8 immunodeficiency syndrome","volume":"4","author":"Ravendran S","year":"2022","unstructured":"Ravendran S, Hern\u00e1ndez SS, K\u00f6nig S, Bak RO. CRISPR\/Cas-based gene editing strategies for DOCK8 immunodeficiency syndrome. Front Genome Ed. 2022, 4:793010. 10.3389\/fgeed.2022.793010","journal-title":"Front Genome Ed"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.632997","article-title":"Transcriptional profiling of STAT1 gain-of-function reveals common and mutation-specific fingerprints","volume":"12","author":"Giovannozzi S","year":"2021","unstructured":"Giovannozzi S, Demeulemeester J, Schrijvers R, Gijsbers R. Transcriptional profiling of STAT1 gain-of-function reveals common and mutation-specific fingerprints. Front Immunol. 2021, 12:632997. 10.3389\/fimmu.2021.632997","journal-title":"Front Immunol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/395640-activated-pi3k-delta-syndrome-a-case-presentation-and-literature-review","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T12:40:03Z","timestamp":1755002403000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/395640-activated-pi3k-delta-syndrome-a-case-presentation-and-literature-review"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,12]]},"references-count":18,"URL":"https:\/\/doi.org\/10.7759\/cureus.89884","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8,12]]}}}