{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:28:06Z","timestamp":1762522086663,"version":"3.37.3"},"reference-count":87,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,10,16]],"date-time":"2017-10-16T00:00:00Z","timestamp":1508112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hermansky\u2010Pudlak syndrome (<jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet\u2010dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid\u2010like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> type 1 and review the updated gene\u2010based classification, clinical features, and recommendations for evaluation and follow\u2010up.<\/jats:p>","DOI":"10.1111\/pde.13266","type":"journal-article","created":{"date-parts":[[2017,10,17]],"date-time":"2017-10-17T03:22:39Z","timestamp":1508210559000},"page":"638-646","source":"Crossref","is-referenced-by-count":16,"title":["Hermansky\u2010Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2650-8761","authenticated-orcid":false,"given":"Manuela","family":"Loredana Asztalos","sequence":"first","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL USA"},{"name":"Department of Pediatrics, Pathology and Laboratory Medicine  Northwestern University Chicago IL USA"},{"name":"Department of Dermatology Feinberg School of Medicine Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristian T.","family":"Schafernak","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL USA"},{"name":"Department of Pediatrics, Pathology and Laboratory Medicine  Northwestern University Chicago IL USA"},{"name":"Department of Dermatology Feinberg School of Medicine Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayla","family":"Gray","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL USA"},{"name":"Department of Pediatrics, Pathology and Laboratory Medicine  Northwestern University Chicago IL USA"},{"name":"Department of Dermatology Feinberg School of Medicine Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Berry","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL USA"},{"name":"Department of Pediatrics, Pathology and Laboratory Medicine  Northwestern University Chicago IL USA"},{"name":"Department of Dermatology Feinberg School of Medicine Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy S.","family":"Paller","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL USA"},{"name":"Department of Pediatrics, Pathology and Laboratory Medicine  Northwestern University Chicago IL USA"},{"name":"Department of Dermatology Feinberg School of Medicine Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony J.","family":"Mancini","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL USA"},{"name":"Department of Pediatrics, Pathology and Laboratory Medicine  Northwestern University Chicago IL USA"},{"name":"Department of Dermatology Feinberg School of Medicine Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.03.011"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12390"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/301757"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-300"},{"key":"e_1_2_5_7_1","unstructured":"GahlWA HuizingM.Hermansky\u2010Pudlak syndrome. In:PagonRA AdamMP ArdingerHH et al. (eds).GeneReviews.Seattle:University of Washington;1993."},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9097"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-835674"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381803"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-4003"},{"volume-title":"Pediatric Dermatology","year":"2011","author":"Schachner LA","key":"e_1_2_5_12_1"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(90)70128-5"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2012.02856.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-92-1-20"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000091609"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524023362357"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.117.1.129"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01491.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164303"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(99)00150-5"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82204-8"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2006.00733.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-199808000-00002"},{"key":"e_1_2_5_25_1","first-page":"1037","article-title":"Altered protein localization in melanocytes from Hermansky\u2010Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking","volume":"78","author":"Boissy RE","year":"1998","journal-title":"Lab Invest"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.157"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2009.00896.x"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/76024"},{"key":"e_1_2_5_30_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.5070\/D3207023127","article-title":"A rare pigmentary disorder in two non\u2010identical siblings: Griscelli syndrome\u2010type 3","volume":"20","author":"Kaur S","year":"2014","journal-title":"Dermatol Online J"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0100-879X2008001000002"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4377"},{"volume-title":"The Immune Response: Basic and Clinical Principles","year":"2006","author":"Mak TW","key":"e_1_2_5_33_1"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0952-7915(03)00113-4"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4398"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-2478(00)00176-0"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(98)70568-7"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2927"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82003-7"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2014.09.008"},{"key":"e_1_2_5_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200405000-00002"},{"key":"e_1_2_5_43_1","unstructured":"IntroneWJ WestbroekW GolasGA AdamsD.Chediak\u2010Higashi Syndrome. In:PagonRA AdamMP ArdingerHH et al. (eds).GeneReviews.Seattle:University of Washington;1993."},{"key":"e_1_2_5_44_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.012286"},{"key":"e_1_2_5_45_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4413"},{"key":"e_1_2_5_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00289.x"},{"key":"e_1_2_5_47_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.2.1300"},{"key":"e_1_2_5_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"volume-title":"Dermatology","year":"2008","author":"Bolognia J","key":"e_1_2_5_49_1"},{"key":"e_1_2_5_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2005.00299.x"},{"key":"e_1_2_5_51_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12051"},{"key":"e_1_2_5_52_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1095291"},{"key":"e_1_2_5_53_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200202000-00006"},{"key":"e_1_2_5_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2012.01029.x"},{"key":"e_1_2_5_55_1","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"e_1_2_5_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.009"},{"key":"e_1_2_5_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(95)90352-6"},{"key":"e_1_2_5_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.003"},{"key":"e_1_2_5_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)60405-4"},{"key":"e_1_2_5_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2004.11.015"},{"key":"e_1_2_5_61_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23884.x"},{"key":"e_1_2_5_62_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0933-5"},{"key":"e_1_2_5_63_1","doi-asserted-by":"publisher","DOI":"10.3109\/09537104.2012.741275"},{"key":"e_1_2_5_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni1000"},{"key":"e_1_2_5_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22793"},{"key":"e_1_2_5_66_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E04-10-0892"},{"key":"e_1_2_5_67_1","doi-asserted-by":"publisher","DOI":"10.1086\/324168"},{"key":"e_1_2_5_68_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3181e5e1f1"},{"key":"e_1_2_5_69_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12386"},{"key":"e_1_2_5_70_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6644"},{"key":"e_1_2_5_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20683"},{"key":"e_1_2_5_72_1","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0b013e32836130a9"},{"key":"e_1_2_5_73_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300090200"},{"key":"e_1_2_5_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"},{"key":"e_1_2_5_75_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2007.01024.x"},{"key":"e_1_2_5_76_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2004.00208.x"},{"key":"e_1_2_5_77_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.228"},{"key":"e_1_2_5_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9463"},{"key":"e_1_2_5_79_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065961"},{"key":"e_1_2_5_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2013.05.012"},{"key":"e_1_2_5_81_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH12-11-0876"},{"key":"e_1_2_5_82_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-01-404350"},{"key":"e_1_2_5_83_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.113.154898"},{"key":"e_1_2_5_84_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-42"},{"key":"e_1_2_5_85_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0080131"},{"key":"e_1_2_5_86_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.17.9238"},{"key":"e_1_2_5_87_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng835"},{"key":"e_1_2_5_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2008.07.018"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13266","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T09:48:29Z","timestamp":1695548909000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,16]]},"references-count":87,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/pde.13266"],"URL":"https:\/\/doi.org\/10.1111\/pde.13266","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2017,10,16]]}}}