{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T04:03:30Z","timestamp":1777608210691,"version":"3.51.4"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2014,9,21]],"date-time":"2014-09-21T00:00:00Z","timestamp":1411257600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1007\/s10875-014-0091-7","type":"journal-article","created":{"date-parts":[[2014,9,20]],"date-time":"2014-09-20T02:31:21Z","timestamp":1411180281000},"page":"1009-1014","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A Novel Mutation in Leukocyte Adhesion Deficiency Type II\/CDGIIc"],"prefix":"10.1007","volume":"34","author":[{"given":"Deniz","family":"Cagdas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurg\u00fcn","family":"Kandemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130lhan","family":"Tezcan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amos","family":"Etzioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zden","family":"Sanal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,9,21]]},"reference":[{"key":"91_CR1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/ajmg.10423","volume":"110","author":"A Etzioni","year":"2002","unstructured":"Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, et al. Leukocyte adhesion deficiency (LAD) type II\/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype\/phenotype correlation. Am J Med Genet. 2002;110:131\u20135.","journal-title":"Am J Med Genet"},{"key":"91_CR2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/j.1749-6632.2011.06389.x","volume":"1250","author":"S Hanna","year":"2012","unstructured":"Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci. 2012;1250:50\u20135.","journal-title":"Ann N Y Acad Sci"},{"key":"91_CR3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.hoc.2012.10.001","volume":"27","author":"E Vijver van de","year":"2013","unstructured":"van de Vijver E, van den Berg TK, Kuijpers TW. Leukocyte adhesion deficiencies. Hematol Oncol Clin N Am. 2013;27:101\u201316.","journal-title":"Hematol Oncol Clin N Am"},{"key":"91_CR4","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1007\/s00431-011-1584-5","volume":"170","author":"JM Berg van den","year":"2011","unstructured":"van den Berg JM, Kuijpers TW. Educational paper: defects in number and function of neutrophilic granulocytes causing primary immunodeficiency. Eur J Pediatr. 2011;170:1369\u201376.","journal-title":"Eur J Pediatr"},{"key":"91_CR5","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1007\/s10875-009-9354-0","volume":"30","author":"Y Gazit","year":"2010","unstructured":"Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, et al. Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. J Clin Immunol. 2010;30:308\u201313.","journal-title":"J Clin Immunol"},{"key":"91_CR6","doi-asserted-by":"crossref","first-page":"2880","DOI":"10.1093\/hmg\/ddu001","volume":"23","author":"A Dauber","year":"2014","unstructured":"Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, et al. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. Hum Mol Genet. 2014;23:2880\u20137.","journal-title":"Hum Mol Genet"},{"key":"91_CR7","doi-asserted-by":"crossref","first-page":"3976","DOI":"10.1182\/blood.V94.12.3976","volume":"94","author":"T Marquardt","year":"1999","unstructured":"Marquardt T, L\u00fchn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 1999;94:3976\u201385.","journal-title":"Blood"},{"key":"91_CR8","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/35019000","volume":"406","author":"DJ Moloney","year":"2000","unstructured":"Moloney DJ, Panin VM, Johnston SH, Chen J, Shao L, Wilson R, et al. Fringe is a glycosyltransferase that modifies Notch. Nature. 2000;406:369\u201375.","journal-title":"Nature"},{"key":"91_CR9","first-page":"69","volume":"28","author":"K L\u00fchn","year":"2001","unstructured":"L\u00fchn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet. 2001;28:69\u201372.","journal-title":"Nat Genet"},{"key":"91_CR10","doi-asserted-by":"crossref","first-page":"35596","DOI":"10.1074\/jbc.274.50.35596","volume":"274","author":"L Puglielli","year":"1999","unstructured":"Puglielli L, Hirschberg CB. Reconstitution, identification, and purification of the rat liver golgi membrane GDP-fucose transporter. J Biol Chem. 1999;274:35596\u2013600.","journal-title":"J Biol Chem"},{"key":"91_CR11","doi-asserted-by":"crossref","first-page":"15721","DOI":"10.1073\/pnas.0507659102","volume":"102","author":"H Schachter","year":"2005","unstructured":"Schachter H. The search for glycan function: fucosylation of the TGF-beta1 receptor is required for receptor activation. Proc Natl Acad Sci U S A. 2005;102:15721\u20132.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"91_CR12","doi-asserted-by":"crossref","first-page":"3959","DOI":"10.1182\/blood-2005-08-3334","volume":"107","author":"Y Helmus","year":"2006","unstructured":"Helmus Y, Denecke J, Yakubenia S, Robinson P, L\u00fchn K, Watson DL, et al. Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter. Blood. 2006;107:3959\u201366.","journal-title":"Blood"},{"key":"91_CR13","doi-asserted-by":"crossref","first-page":"4390","DOI":"10.1111\/j.1742-4658.2006.05438.x","volume":"273","author":"S Yakubenia","year":"2006","unstructured":"Yakubenia S, Wild MK. Leukocyte adhesion deficiency II. Advances and open questions. FEBS J. 2006;273:4390\u20138.","journal-title":"FEBS J"},{"key":"91_CR14","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1056\/NEJM199212173272505","volume":"327","author":"A Etzioni","year":"1992","unstructured":"Etzioni A, Frydman M, Pollack S, Avidor I, Phillips ML, Paulson JC, et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med. 1992;327:1789\u201392.","journal-title":"N Engl J Med"},{"key":"91_CR15","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S0091-6749(98)70104-6","volume":"102","author":"A Etzioni","year":"1998","unstructured":"Etzioni A, Gershoni-Baruch R, Pollack S, Shehadeh N. Leukocyte adhesion deficiency type II: long term follow-up. J Allergy Clin Immunol. 1998;102:323\u20134.","journal-title":"J Allergy Clin Immunol"},{"key":"91_CR16","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1242\/dev.033290","volume":"136","author":"S Ohata","year":"2009","unstructured":"Ohata S, Kinoshita S, Aoki R, Tanaka H, Wada H, Tsuruoka-Kinoshita S, et al. Neuroepithelial cells require fucosylated glycans to guide the migration of vagus motor neuron progenitors in the developing zebrafish hindbrain. Development. 2009;136:1653\u201363.","journal-title":"Development"},{"key":"91_CR17","doi-asserted-by":"crossref","first-page":"18434","DOI":"10.1074\/jbc.M110.172536","volume":"286","author":"T Fukuda","year":"2011","unstructured":"Fukuda T, Hashimoto H, Okayasu N, Kameyama A, Onogi H, Nakagawasai O, et al. Alpha1,6-fucosyltransferase-deficient mice exhibit multiple behavioral abnormalities associated with a schizophrenia-like phenotype: importance of the balance between the dopamine and serotonin systems. J Biol Chem. 2011;286:18434\u201343.","journal-title":"J Biol Chem"},{"key":"91_CR18","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1159\/000066968","volume":"172","author":"MK Wild","year":"2002","unstructured":"Wild MK, L\u00fchn K, Marquardt T, Vestweber D. Leukocyte adhesion deficiency II: therapy and genetic defect. Cells Tissues Organs. 2002;172:161\u201373.","journal-title":"Cells Tissues Organs"},{"key":"91_CR19","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1182\/blood-2002-09-2840","volume":"101","author":"A Hidalgo","year":"2003","unstructured":"Hidalgo A, Ma S, Peired AJ, Weiss LA, Cunningham-Rundles C, Frenette PS. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Blood. 2003;101:1705\u201312.","journal-title":"Blood"},{"key":"91_CR20","doi-asserted-by":"crossref","first-page":"3641","DOI":"10.1182\/blood.V95.11.3641","volume":"95","author":"A Etzioni","year":"2000","unstructured":"Etzioni A, Tonetti M. Fucose supplementation in leukocyte adhesion deficiency type II. Blood. 2000;95:3641\u20133.","journal-title":"Blood"},{"key":"91_CR21","doi-asserted-by":"crossref","first-page":"25986","DOI":"10.1074\/jbc.274.37.25986","volume":"274","author":"T L\u00fcbke","year":"1999","unstructured":"L\u00fcbke T, Marquardt T, von Figura K, K\u00f6rner C. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. J Biol Chem. 1999;274:25986\u20139.","journal-title":"J Biol Chem"},{"key":"91_CR22","doi-asserted-by":"crossref","first-page":"3738","DOI":"10.1073\/pnas.061593098","volume":"98","author":"P Berninsone","year":"2001","unstructured":"Berninsone P, Hwang HY, Zemtseva I, Horvitz HR, Hirschberg CB. SQV-7, a protein involved in Caenorhabditis elegans epithelial invagination and early embryogenesis, transports UDP-glucuronic acid, UDP-N-acetylgalactosamine, and UDP-galactose. Proc Natl Acad Sci U S A. 2001;98:3738\u201343.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"91_CR23","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1111\/j.1651-2227.2007.00240.x","volume":"96","author":"L Gelernter-Yaniv","year":"2007","unstructured":"Gelernter-Yaniv L, Lorber A. The familial form of atrial septal defect. Acta Paediatr. 2007;96:726\u201330.","journal-title":"Acta Paediatr"},{"key":"91_CR24","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/jmg.2008.057620","volume":"46","author":"S Romano","year":"2009","unstructured":"Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Barac\u00e9 C, et al. Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). J Med Genet. 2009;46:287\u20138.","journal-title":"J Med Genet"},{"key":"91_CR25","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/S0304-4165(00)00092-1","volume":"1475","author":"E Struppe","year":"2000","unstructured":"Struppe E, Staudacher E. Occurence of GDP-L-fucose: beta-N-acetylglucosamine (Fuc to asn-linked GlcNAc) alpha 1,6-fucosyltransferases in porcine, sheep, bovine, rabbit and chicken tissues. Biochim Biophys Acta. 2000;1475:360\u20138.","journal-title":"Biochim Biophys Acta"},{"key":"91_CR26","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1146\/annurev.cellbio.19.041603.094522","volume":"19","author":"AF Schier","year":"2003","unstructured":"Schier AF. Nodal signaling in vertebrate development. Annu Rev Cell Dev Biol. 2003;19:589\u2013621.","journal-title":"Annu Rev Cell Dev Biol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-014-0091-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-014-0091-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-014-0091-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T18:35:00Z","timestamp":1598294100000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-014-0091-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,21]]},"references-count":26,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["91"],"URL":"https:\/\/doi.org\/10.1007\/s10875-014-0091-7","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,21]]}}}