{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:39:45Z","timestamp":1777351185299,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,9]],"date-time":"2019-12-09T00:00:00Z","timestamp":1575849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Young Scientists from the Ministry of Education, Culture, Sports, Science, and Technology of Japan","award":["18K16046"],"award-info":[{"award-number":["18K16046"]}]},{"name":"Grant-in-Aid for Scientific Research (C) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan","award":["16K10034"],"award-info":[{"award-number":["16K10034"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hermansky\u2013Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder is caused by disruption of the adapter protein 3 complex, which is involved in impaired intracellular vesicle transport. Here, we report the first case of a 1\u2010year\u2010old girl with HPS2 in Asia. She had no specific symptoms other than OCA and neutropenia. We analyzed her platelet function using transmission electron microscopy and a platelet aggregation test, cytotoxic degranulation assay of her natural killer (NK) cells and bleeding time, the results of which led to the diagnosis of HPS2. Although her NK\u2010cell cytotoxic degranulation was impaired, she had not developed signs of hemophagocytic lymphohistiocytosis (HLH) or fibrosing lung disease. Molecular genetic analyses showed novel heterozygous mutations (c.188T&gt;A [p.M63K] and c.2546&gt;A [p.L849X]) in <jats:italic>AP3B1<\/jats:italic>. When examining patients with OCA, blood tests should be performed to confirm neutrophil count, bleeding time and platelet agglutination. When HPS2 is suspected, detailed immunological tests should be considered, and attention should be paid to HLH and pulmonary lesions immediately and over the long term.<\/jats:p>","DOI":"10.1111\/1346-8138.15177","type":"journal-article","created":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T04:59:21Z","timestamp":1575953961000},"page":"185-189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel <i>AP3B1<\/i> compound heterozygous mutations in a Japanese patient with Hermansky\u2013Pudlak syndrome type 2"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5012-0906","authenticated-orcid":false,"given":"Takuro","family":"Nishikawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mizuki","family":"Moriyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Lalala Children\u2019s Clinic Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-1765","authenticated-orcid":false,"given":"Atsuko","family":"Ibusuki","sequence":"additional","affiliation":[{"name":"Departments of Department of Dermatology Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Sameshima","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izumi","family":"Masamoto","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ieharu","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Research Institute BML Inc. Tokyo Japan"},{"name":"Department of Molecular Pathology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kay","family":"Tanita","sequence":"additional","affiliation":[{"name":"Departments of Department of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3904-5954","authenticated-orcid":false,"given":"Takuro","family":"Kanekura","sequence":"additional","affiliation":[{"name":"Departments of Department of Dermatology Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[{"name":"Department of Child Health and Development Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshifumi","family":"Kawano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12025"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13266"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni1000"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4398"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-671636"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200202000-00006"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14831"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12800"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12543"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jim.2004.08.008"},{"key":"e_1_2_6_14_1","first-page":"30335","article-title":"Hermansky\u2010Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: case description and review of the literature","volume":"2213","author":"Dell'Acqua F","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4413"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.15177","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15177","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.15177","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T06:34:04Z","timestamp":1693290844000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.15177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,9]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1111\/1346-8138.15177"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.15177","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,9]]},"assertion":[{"value":"2019-09-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}