{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T20:12:43Z","timestamp":1780344763264,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":111,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    A 29\u2010year\u2010old Moroccan with oculocutaneous albinism presented with a history of exertional dyspnea, recurrent epistaxis, and bacterial infections, raising suspicion of Hermansky\u2013Pudlak syndrome (HPS). Further evaluation revealed neutropenia, impaired platelet function, pulmonary fibrosis, and mild pulmonary hypertension. An ECG identified ventricular pre\u2010excitation with a postero\u2010septal right accessory pathway, consistent with Wolff\u2013Parkinson\u2013White (WPW) syndrome. Genetic testing confirmed a homozygous mutation in the\n                    <jats:italic>AP3B1<\/jats:italic>\n                    gene and a diagnosis of Type 2 HPS (HPS\u20102) was made. HPS\u20102 is an extremely rare disorder, and to our knowledge, the co\u2010occurrence of WPW syndrome has not been previously reported in literature. We propose a potential causal link between these two conditions, as mutations in the\n                    <jats:italic>AP3B1<\/jats:italic>\n                    gene\u2014which encodes the beta subunit of the adapter protein 3 trafficking complex\u2014result in mistrafficking of transmembrane proteins from the endosomal and trans\u2010Golgi network to lysosomes and endosome\u2013lysosome\u2010related organelles. Specifically, the dysfunction of a transmembrane protein, namely the lysosome\u2010associated membrane protein 2 (LAMP\u20102), has been implicated in the development of cardiac accessory pathways, as seen in Danon disease. We hypothesize that individuals with HPS\u20102 may have a genetic predisposition to WPW syndrome, and this hypothesis should be investigated in further studies.\n                  <\/jats:p>","DOI":"10.1155\/carm\/5525411","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T06:22:53Z","timestamp":1745302973000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A 29\u2010Year\u2010Old Man With Type 2 Hermansky\u2013Pudlak Syndrome and Wolff\u2013Parkinson\u2013White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions"],"prefix":"10.1155","volume":"2025","author":[{"given":"Riccardo","family":"Alcidi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Campanella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3504-5421","authenticated-orcid":false,"given":"Rosa","family":"Curcio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Chiatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0001-2522","authenticated-orcid":false,"given":"Alessio","family":"Arrivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Ferranti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Carreras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Barabani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0180-859X","authenticated-orcid":false,"given":"Giacomo","family":"Pucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.v14.2.162.162"},{"key":"e_1_2_8_2_2","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Introne W. 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