{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T15:55:57Z","timestamp":1784735757899,"version":"3.55.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"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:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Activated phosphoinositide 3-kinase delta syndrome (APDS) is an inborn error of immunity first described in 2013. With an estimated prevalence of 1\u20132 per 1,000,000 individuals, it is considered an ultra-rare disease. The aim of this survey was to explore the diagnostic and therapeutic challenges of patients with APDS from the patients` and physicians` perspective in Austria, Germany, and Switzerland.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A qualitative case study approach was applied. Semi-structured interviews were conducted with six patients or legal guardians of children with APDS, and four clinical immunologists with direct experience in APDS care. Transcripts were analyzed using inductive content analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results\/discussion<\/jats:title>\n                    <jats:p>The interviews revealed a median diagnostic delay of several years, mainly due to the rarity and phenotypic heterogeneity of APDS and the involvement of multiple specialties prior to referral to an immunologist. Many patients initially received symptomatic treatment before an underlying immune disorder was suspected. Physicians emphasized the decisive role of genetic testing for confirmation, while patients frequently described the diagnosis as a \u201clucky coincidence\u201d. Both groups highlighted structural barriers including limited awareness, fragmented care, and delayed access to targeted therapy. Early recognition of APDS requires specific education across specialties, wider access to genetic testing, and the development of standardized diagnostic and disease activity tools. Strengthening interdisciplinary care pathways and timely initiation of APDS-specific therapy may substantially improve outcomes in this ultra-rare immunodeficiency.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1763482","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T07:03:38Z","timestamp":1772607818000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys"],"prefix":"10.3389","volume":"17","author":[{"given":"Hermann Maximilian","family":"Wolf","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Sigmund Freud Private University Vienna (SFU)","place":["Vienna, Austria"]},{"name":"Clinical Immunology Office","place":["Vienna, Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Candotti","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Spelsberg","sequence":"additional","affiliation":[{"name":"fbeta GmbH","place":["Berlin, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Sogkas","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Hannover Medical School (MHH)","place":["Hannover, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Holger","family":"Ble\u00df","sequence":"additional","affiliation":[{"name":"fbeta GmbH","place":["Berlin, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten H.","family":"Herrmann","sequence":"additional","affiliation":[{"name":"Pharming Group NV","place":["Leiden, Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"Hauck","sequence":"additional","affiliation":[{"name":"Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children\u2019s University Hospital, Munich Ludwig-Maximilians-Universit\u00e4t","place":["M\u00fcnchen, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1243292","article-title":"Phosphoinositide 3-kinase \u03b4 gene mutation predisposes to respiratory infection and airway damage","volume":"342","author":"Angulo","year":"2013","journal-title":"Science"},{"key":"B2","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/ni.2771","article-title":"Dominant-activating germline 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