{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:37:21Z","timestamp":1792035441491,"version":"4.4.0"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.clim.2020.108599","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T13:06:29Z","timestamp":1601298389000},"page":"108599","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing"],"prefix":"10.1016","volume":"221","author":[{"given":"Nina","family":"Cooper","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Tung","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anette","family":"M\u00f6ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Schulz-Weidner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich J.","family":"Sachs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Hackstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Wienzek-Lischka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Gr\u00fcneberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin K.","family":"Wild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"Bein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2020.108599_bb0005","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1007\/s10875-014-0091-7","article-title":"A novel mutation in leukocyte adhesion deficiency type II\/CDGIIc","volume":"34","author":"Cagdas","year":"2014","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108599_bb0010","doi-asserted-by":"crossref","first-page":"2880","DOI":"10.1093\/hmg\/ddu001","article-title":"Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect","volume":"23","author":"Dauber","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clim.2020.108599_bb0015","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1056\/NEJM199212173272505","article-title":"Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency","volume":"327","author":"Etzioni","year":"1992","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2020.108599_bb0020","doi-asserted-by":"crossref","first-page":"3641","DOI":"10.1182\/blood.V95.11.3641.011a52g_3641_3643","article-title":"Fucose supplementation in leukocyte adhesion deficiency type II","volume":"95","author":"Etzioni","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.clim.2020.108599_bb0025","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1083\/jcb.117.4.895","article-title":"The three members of the selectin receptor family recognize a common carbohydrate epitope, the sialyl Lewis(x) oligosaccharide","volume":"117","author":"Foxall","year":"1992","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.clim.2020.108599_bb0030","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/ajmg.1320440307","article-title":"Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype","volume":"44","author":"Frydman","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.clim.2020.108599_bb0035","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1007\/s10875-009-9354-0","article-title":"Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature","volume":"30","author":"Gazit","year":"2010","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108599_bb0040","doi-asserted-by":"crossref","first-page":"3959","DOI":"10.1182\/blood-2005-08-3334","article-title":"Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter","volume":"107","author":"Helmus","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.clim.2020.108599_bb0045","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1182\/blood-2002-09-2840","article-title":"Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene","volume":"101","author":"Hidalgo","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.clim.2020.108599_bb0050","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/ng0501-73","article-title":"Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency","volume":"28","author":"L\u00fcbke","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2020.108599_bb0055","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/ng0501-69","article-title":"The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter","volume":"28","author":"L\u00fchn","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2020.108599_bb0060","doi-asserted-by":"crossref","first-page":"D873","DOI":"10.1093\/nar\/gkt1198","article-title":"Locus reference genomic: reference sequences for the reporting of clinically relevant sequence variants","volume":"42","author":"MacArthur","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.clim.2020.108599_bb0065","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/S0022-3476(99)70281-7","article-title":"Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism","volume":"134","author":"Marquardt","year":"1999","journal-title":"J. Pediatr."},{"key":"10.1016\/j.clim.2020.108599_bb0070","doi-asserted-by":"crossref","first-page":"3976","DOI":"10.1182\/blood.V94.12.3976","article-title":"Correction of leukocyte adhesion deficiency type II with oral fucose","volume":"94","author":"Marquardt","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.clim.2020.108599_bb0075","doi-asserted-by":"crossref","first-page":"7300","DOI":"10.1074\/jbc.RA117.000775","article-title":"Distinct human \u03b1(1,3)-fucosyltransferases drive Lewis-X\/sialyl Lewis-X assembly in human cells","volume":"293","author":"Mondal","year":"2018","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clim.2020.108599_bb0080","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ejmg.2017.10.012","article-title":"Congenital disorders of glycosylation (CDG): quo vadis?","volume":"61","author":"P\u00e9anne","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.clim.2020.108599_bb0085","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.clim.2020.108599_bb0090","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1046\/j.1537-2995.1997.37397240210.x","article-title":"Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles","volume":"37","author":"Wagner","year":"1997","journal-title":"Transfusion"},{"key":"10.1016\/j.clim.2020.108599_bb0095","doi-asserted-by":"crossref","first-page":"24356","DOI":"10.1074\/jbc.M112.365643","article-title":"Lewis X-carrying N-glycans regulate the proliferation of mouse embryonic neural stem cells via the notch signaling pathway","volume":"287","author":"Yagi","year":"2012","journal-title":"J. Biol. Chem."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661620307592?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661620307592?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:00:51Z","timestamp":1761494451000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661620307592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":19,"alternative-id":["S1521661620307592"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2020.108599","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2020.108599","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108599"}}