{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T00:25:17Z","timestamp":1793060717201,"version":"4.5.0"},"reference-count":32,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24 HG008956"],"award-info":[{"award-number":["U24 HG008956"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016650","name":"Rare Diseases Clinical Research Network","doi-asserted-by":"publisher","award":["U2CTR002818"],"award-info":[{"award-number":["U2CTR002818"]}],"id":[{"id":"10.13039\/100016650","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["U54HL096458"],"award-info":[{"award-number":["U54HL096458"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["X01HL115246-01"],"award-info":[{"award-number":["X01HL115246-01"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01HL071798"],"award-info":[{"award-number":["R01HL071798"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019039","name":"Center for Mendelian Genomics, University of Washington","doi-asserted-by":"publisher","award":["UM1HG006504"],"award-info":[{"award-number":["UM1HG006504"]}],"id":[{"id":"10.13039\/100019039","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008094","name":"The Women&apos;s Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008094","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["BOUCHE19R0"],"award-info":[{"award-number":["BOUCHE19R0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006808","name":"University of North Carolina","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006808","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2025,5]]},"DOI":"10.1016\/j.jpeds.2025.114499","type":"journal-article","created":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T19:36:04Z","timestamp":1738870564000},"page":"114499","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome"],"prefix":"10.1016","volume":"280","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-6750","authenticated-orcid":false,"given":"Adam J.","family":"Shapiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eveline Y.","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7780-4707","authenticated-orcid":false,"given":"Deborah J.","family":"Morris-Rosendahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth N.","family":"Olivier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon D.","family":"Dell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott D.","family":"Sagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cullen M.","family":"Dutmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo A.","family":"Mosquera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Rose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"O'Connor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi A.","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulbu","family":"Uzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J.","family":"Vece","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie D.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Ferkol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2025.114499_bib1","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2023-063064","article-title":"Primary ciliary dyskinesia","volume":"153","author":"Wee","year":"2024","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2025.114499_bib2","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1183\/13993003.01551-2015","article-title":"PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia","volume":"47","author":"Behan","year":"2016","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jpeds.2025.114499_bib3","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1513\/AnnalsATS.201511-748OC","article-title":"Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents","volume":"13","author":"Leigh","year":"2016","journal-title":"Ann Am Thorac Soc"},{"key":"10.1016\/j.jpeds.2025.114499_bib4","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society Clinical Practice Guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2025.114499_bib5","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01090-2016","article-title":"European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Lucas","year":"2017","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jpeds.2025.114499_bib6","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02503-2017","article-title":"Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection","volume":"51","author":"Marthin","year":"2018","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jpeds.2025.114499_bib7","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1164\/ajrccm.162.6.2003051","article-title":"Reduced nasal nitric oxide in diffuse panbronchiolitis","volume":"162","author":"Nakano","year":"2000","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2025.114499_bib8","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ppul.23304","article-title":"Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD Foundation consensus recommendations based on state of the art review","volume":"51","author":"Shapiro","year":"2016","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jpeds.2025.114499_bib9","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1007\/s10875-019-00613-8","article-title":"Nasal nitric oxide in primary immunodeficiency and primary ciliary dyskinesia: helping to distinguish between clinically similar diseases","volume":"39","author":"Zysman-Colman","year":"2019","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib10","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1002\/ppul.25636","article-title":"Use caution interpreting nasal nitric oxide: overlap in primary ciliary dyskinesia and primary immunodeficiency","volume":"56","author":"Barber","year":"2021","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jpeds.2025.114499_bib11","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1002\/ppul.25989","article-title":"Nasal nitric oxide may not differentiate primary ciliary dyskinesia from certain primary immunodeficiencies","volume":"57","author":"Saunders","year":"2022","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jpeds.2025.114499_bib12","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1513\/AnnalsATS.201904-347OT","article-title":"Nasal nitric oxide measurement in primary ciliary dyskinesia. A technical paper on standardized testing protocols","volume":"17","author":"Shapiro","year":"2020","journal-title":"Ann Am Thorac Soc"},{"key":"10.1016\/j.jpeds.2025.114499_bib13","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02031-2022","article-title":"Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society Technical Standard","volume":"61","author":"Beydon","year":"2023","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jpeds.2025.114499_bib14","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00725-2019","article-title":"International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)","volume":"55","author":"Shoemark","year":"2020","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jpeds.2025.114499_bib15","doi-asserted-by":"crossref","first-page":"974","DOI":"10.3390\/cells13110974","article-title":"Primary ciliary dyskinesia: a clinical review","volume":"13","author":"Despotes","year":"2024","journal-title":"Cells"},{"key":"10.1016\/j.jpeds.2025.114499_bib16","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.259512","article-title":"The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia","volume":"135","author":"Smith","year":"2022","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jpeds.2025.114499_bib17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jpeds.2025.114499_bib18","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.703056","article-title":"Case report: intestinal nodular lymphoid hyperplasia as first manifestation of activated PI3K\u03b4 syndrome due to a novel PIK3CD variant","volume":"9","author":"Marzollo","year":"2021","journal-title":"Front Pediatr"},{"key":"10.1016\/j.jpeds.2025.114499_bib19","article-title":"Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report","volume":"49","author":"Zhang","year":"2021","journal-title":"J Int Med Res"},{"key":"10.1016\/j.jpeds.2025.114499_bib20","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/pr.2016.263","article-title":"Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis","volume":"81","author":"Kouis","year":"2017","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jpeds.2025.114499_bib21","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1164\/rccm.202003-0835LE","article-title":"Limitations of nasal nitric oxide testing in primary ciliary dyskinesia","volume":"202","author":"Shapiro","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2025.114499_bib22","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/s10875-019-00612-9","article-title":"Immune dysregulation and disease pathogenesis due to activating mutations in PIK3CD\u2014the Goldilocks' effect","volume":"39","author":"Tangye","year":"2019","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib23","doi-asserted-by":"crossref","first-page":"984","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","year":"2023","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib24","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.jaci.2016.03.022","article-title":"Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase \u03b4 syndrome 2: a cohort study","volume":"138","author":"Elkaim","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib25","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.jaci.2016.06.021","article-title":"Clinical spectrum and features of activated phosphoinositide 3-kinase \u03b4 syndrome: a large patient cohort study","volume":"139","author":"Coulter","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib26","doi-asserted-by":"crossref","first-page":"4095","DOI":"10.1016\/j.jaip.2021.07.044","article-title":"Clinical manifestations and outcomes of activated phosphoinositide 3-kinase \u03b4 syndrome from the USIDNET cohort","volume":"9","author":"Oh","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.jpeds.2025.114499_bib27","doi-asserted-by":"crossref","first-page":"866","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":"10.1016\/j.jpeds.2025.114499_bib28","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1038\/nri.2016.93","article-title":"PI3K\u03b4 and primary immunodeficiencies","volume":"16","author":"Lucas","year":"2016","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib29","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.697706","article-title":"Natural course of activated phosphoinositide 3-kinase delta syndrome in childhood and adolescence","volume":"9","author":"Bloomfield","year":"2021","journal-title":"Front Pediatr"},{"key":"10.1016\/j.jpeds.2025.114499_bib30","doi-asserted-by":"crossref","first-page":"71","DOI":"10.3389\/fped.2017.00071","article-title":"Immunodeficiency-associated lymphoid hyperplasia as a cause of intussusception in a case of activated PI3K-\u03b4 syndrome","volume":"5","author":"Mettman","year":"2017","journal-title":"Front Pediatr"},{"key":"10.1016\/j.jpeds.2025.114499_bib31","doi-asserted-by":"crossref","first-page":"237","DOI":"10.3389\/fimmu.2018.00237","article-title":"Herpesviruses in the activated phosphatidylinositol-3-kinase-\u03b4 syndrome","volume":"9","author":"Cohen","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jpeds.2025.114499_bib32","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1182\/blood.2022018546","article-title":"A randomized, placebo-controlled phase 3 trial of the PI3K\u03b4 inhibitor leniolisib for activated PI3K\u03b4 syndrome","volume":"141","author":"Rao","year":"2023","journal-title":"Blood"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347625000393?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347625000393?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T23:07:43Z","timestamp":1778627263000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347625000393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":32,"alternative-id":["S0022347625000393"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2025.114499","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2025.114499","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"114499"}}