{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T15:26:15Z","timestamp":1781191575435,"version":"3.54.1"},"reference-count":10,"publisher":"Wiley","issue":"S27","license":[{"start":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T00:00:00Z","timestamp":1643068800000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Activated phosphoinositide 3\u2010kinase delta syndrome (APDS) is a recently described form of inborn error of immunity (IEI) caused by heterozygous mutations in <jats:italic>PIK3CD<\/jats:italic> or <jats:italic>PIK3R1<\/jats:italic>\u00a0genes, respectively, encoding leukocyte\u2010restricted catalytic p110\u03b4 subunit and the ubiquitously expressed regulatory p85 <jats:italic>\u03b1<\/jats:italic> subunit of the phosphoinositide 3\u2010kinase \u03b4 (PI3K<jats:italic>\u03b4<\/jats:italic>). The first described patients with respiratory infections, hypogammaglobulinemia with normal to elevated IgM serum levels, lymphopenia, and lymphoproliferation. Since the original description, it is becoming evident that the onset of disease may be somewhat variable over time, both in terms of age at presentation and in terms of clinical and immunological complications. In many cases, patients are referred to various specialists such as hematologists, rheumatologists, gastroenterologists, and others, before an immunological evaluation is performed, leading to delay in diagnosis, which negatively affects their prognosis. The significant heterogeneity in the clinical and immunological features affecting APDS patients requires awareness among clinicians since good results with p110<jats:italic>\u03b4<\/jats:italic> inhibitors have been reported, certainly ameliorating these patients\u2019 quality of life and prognosis.<\/jats:p>","DOI":"10.1111\/pai.13634","type":"journal-article","created":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T06:29:44Z","timestamp":1643178584000},"page":"69-72","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Activated phosphoinositide 3\u2010dinase delta syndrome (APDS): An update"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2303-9533","authenticated-orcid":false,"given":"Vassilios","family":"Lougaris","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli University of Brescia ASST\u2010Spedali Civili di Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8410-9617","authenticated-orcid":false,"given":"Caterina","family":"Cancrini","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine University of Rome Tor Vergata  Rome Italy"},{"name":"Academic Department of Pediatrics (DPUO) Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2199-289X","authenticated-orcid":false,"given":"Beatrice","family":"Rivalta","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine University of Rome Tor Vergata  Rome Italy"},{"name":"Academic Department of Pediatrics (DPUO) Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0029-9383","authenticated-orcid":false,"given":"Riccardo","family":"Castagnoli","sequence":"additional","affiliation":[{"name":"Pediatric Clinic Fondazione IRCCS Policlinico San Matteo University of Pavia  Pavia Italy"},{"name":"Department of Clinical Surgical, Diagnostic and Pediatric Sciences University of Pavia  Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0621-9527","authenticated-orcid":false,"given":"Giuliana","family":"Giardino","sequence":"additional","affiliation":[{"name":"Pediatric Section Department of Translational Medical Sciences Federico II University  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7129-868X","authenticated-orcid":false,"given":"Stefano","family":"Volpi","sequence":"additional","affiliation":[{"name":"Center for Autoinflammatory Diseases and Immunodeficiency IRCCS Istituto Giannina Gaslini Universit\u00e0 degli Studi di Genova  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2554-1263","authenticated-orcid":false,"given":"Lucia","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences Sapienza University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5235-2900","authenticated-orcid":false,"given":"Francesco","family":"La Torre","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Giovanni XXIII Pediatric Hospital University of Bari  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7780-6430","authenticated-orcid":false,"given":"Silvia","family":"Federici","sequence":"additional","affiliation":[{"name":"Division of Rheumatology IRCCS Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corrente","sequence":"additional","affiliation":[{"name":"Division of Pediatrics S. 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