{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T06:50:54Z","timestamp":1789973454525,"version":"4.0.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"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","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1016\/j.jaci.2013.12.1090","type":"journal-article","created":{"date-parts":[[2014,2,28]],"date-time":"2014-02-28T10:24:43Z","timestamp":1393583083000},"page":"178-187.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":43,"title":["Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype"],"prefix":"10.1016","volume":"134","author":[{"given":"Eunice Ching","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7668-0247","authenticated-orcid":false,"given":"Arnold S.","family":"Kirshenbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth R.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3895-9634","authenticated-orcid":false,"given":"Olga","family":"Simakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geethani","family":"Bandara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda M.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura B.","family":"Wisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daly","family":"Cantave","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melody C.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Noel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Maric","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair M.","family":"Gilfillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean D.","family":"Metcalfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd M.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2013.12.1090_bib1","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1182\/blood-2007-11-078097","article-title":"Mast cells and mastocytosis","volume":"112","author":"Metcalfe","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.12.1090_bib2","series-title":"WHO classification of tumours of haematopoietic and lymphoid tissues","first-page":"54","article-title":"Mastocytosis","author":"Horny","year":"2008"},{"key":"10.1016\/j.jaci.2013.12.1090_bib3","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S0145-2126(01)00038-8","article-title":"Diagnostic criteria and classification of mastocytosis: a consensus proposal","volume":"25","author":"Valent","year":"2001","journal-title":"Leuk Res"},{"key":"10.1016\/j.jaci.2013.12.1090_bib4","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1159\/000237541","article-title":"c-kit mutation in a population of patients with mastocytosis","volume":"113","author":"Nagata","year":"1997","journal-title":"Int Arch Allergy Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib5","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/1097-0142(20010801)92:3<657::AID-CNCR1367>3.0.CO;2-D","article-title":"Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa","volume":"92","author":"Beghini","year":"2001","journal-title":"Cancer"},{"key":"10.1016\/j.jaci.2013.12.1090_bib6","doi-asserted-by":"crossref","first-page":"e88","DOI":"10.1136\/jmg.2003.015156","article-title":"A germline mutation in KIT in familial diffuse cutaneous mastocytosis","volume":"41","author":"Tang","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaci.2013.12.1090_bib7","doi-asserted-by":"crossref","first-page":"3222","DOI":"10.1182\/blood-2003-11-3816","article-title":"A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib","volume":"103","author":"Akin","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.12.1090_bib8","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1053\/j.gastro.2005.06.060","article-title":"Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis","volume":"129","author":"Hartmann","year":"2005","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaci.2013.12.1090_bib9","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.leukres.2005.08.015","article-title":"A novel K509I mutation of KIT identified in familial mastocytosis-in\u00a0vitro and in\u00a0vivo responsiveness to imatinib therapy","volume":"30","author":"Zhang","year":"2006","journal-title":"Leuk Res"},{"key":"10.1016\/j.jaci.2013.12.1090_bib10","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.exphem.2011.05.009","article-title":"Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis","volume":"39","author":"Wasag","year":"2011","journal-title":"Exp Hematol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib11","doi-asserted-by":"crossref","first-page":"e245","DOI":"10.1200\/JCO.2012.42.0133","article-title":"Rare, germline mutation of KIT with imatinib-resistant multiple GI stromal tumors and mastocytosis","volume":"31","author":"Speight","year":"2013","journal-title":"J Clin Oncol"},{"issue":"Suppl","key":"10.1016\/j.jaci.2013.12.1090_bib12","doi-asserted-by":"crossref","first-page":"S327","DOI":"10.1016\/j.jaci.2004.01.683","article-title":"Well-differentiated systemic mastocytosis: A\u00a0new disease variant with mature mast cell phenotype and lack of codon 816 c-kit mutations","volume":"113","author":"Akin","year":"2004","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib13","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/j.jaci.2009.10.020","article-title":"Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes","volume":"125","author":"Teodosio","year":"2010","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib14","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1038\/modpathol.2011.84","article-title":"Evaluation of the WHO criteria for the classification of patients with mastocytosis","volume":"24","author":"Sanchez-Munoz","year":"2011","journal-title":"Mod Pathol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib15","doi-asserted-by":"crossref","first-page":"e126","DOI":"10.1200\/JCO.2011.38.9973","article-title":"Complete response after imatinib mesylate therapy in a patient with well-differentiated systemic mastocytosis","volume":"30","author":"Alvarez-Twose","year":"2012","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib16","doi-asserted-by":"crossref","first-page":"459","DOI":"10.3324\/haematol.2010.031690","article-title":"Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis","volume":"96","author":"Wilson","year":"2011","journal-title":"Haematologica"},{"key":"10.1016\/j.jaci.2013.12.1090_bib17","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/j.jaci.2007.05.024","article-title":"KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1\/PDGFRA-associated chronic eosinophilic leukemia are distinct entities","volume":"120","author":"Maric","year":"2007","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib18","doi-asserted-by":"crossref","DOI":"10.1002\/0471142735.im0737s90","article-title":"Generation, isolation, and maintenance of human mast cells and mast cell lines derived from peripheral blood or cord blood","author":"Radinger","year":"2010","journal-title":"Curr Protoc Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib19","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1182\/blood.V94.7.2333.419k30_2333_2342","article-title":"Demonstration that human mast cells arise from a progenitor cell population that is CD34(+), c-kit(+), and expresses aminopeptidase N (CD13)","volume":"94","author":"Kirshenbaum","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.12.1090_bib20","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/0145-2126(88)90050-1","article-title":"Establishment of an immature mast cell line from a patient with mast cell leukemia","volume":"12","author":"Butterfield","year":"1988","journal-title":"Leuk Res"},{"key":"10.1016\/j.jaci.2013.12.1090_bib21","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/S0145-2126(02)00343-0","article-title":"Characterization of novel stem cell factor responsive human mast cell lines LAD 1 and 2 established from a patient with mast cell sarcoma\/leukemia; activation following aggregation of FcepsilonRI or FcgammaRI","volume":"27","author":"Kirshenbaum","year":"2003","journal-title":"Leuk Res"},{"key":"10.1016\/j.jaci.2013.12.1090_bib22","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1124\/jpet.107.125237","article-title":"Concurrent inhibition of kit- and FcepsilonRI-mediated signaling: coordinated suppression of mast cell activation","volume":"324","author":"Jensen","year":"2008","journal-title":"J Pharmacol Exp Ther"},{"key":"10.1016\/j.jaci.2013.12.1090_bib23","doi-asserted-by":"crossref","first-page":"3298","DOI":"10.1002\/1521-4141(200111)31:11<3298::AID-IMMU3298>3.0.CO;2-U","article-title":"IgG-dependent activation of human mast cells following up-regulation of FcgammaRI by IFN-gamma","volume":"31","author":"Woolhiser","year":"2001","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib24","doi-asserted-by":"crossref","first-page":"2410","DOI":"10.1182\/blood-2004-02-0631","article-title":"Kit and FcepsilonRI mediate unique and convergent signals for release of inflammatory mediators from human mast cells","volume":"104","author":"Hundley","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.12.1090_bib25","doi-asserted-by":"crossref","first-page":"3396","DOI":"10.1002\/1521-4141(2000012)30:12<3396::AID-IMMU3396>3.0.CO;2-O","article-title":"Murine mast cell lines as indicators of early events in mast cell and basophil development","volume":"30","author":"Lunderius","year":"2000","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib26","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.exphem.2013.05.005","article-title":"KIT GNNK\u00a0splice variants: Expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells","volume":"41","author":"Chan","year":"2013","journal-title":"Exp Hematol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib27","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1038\/leu.2012.218","article-title":"Targeting the KIT activating switch control pocket: a novel mechanism to inhibit neoplastic mast cell proliferation and mast cell activation","volume":"27","author":"Bai","year":"2013","journal-title":"Leukemia"},{"key":"10.1016\/j.jaci.2013.12.1090_bib28","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/nar\/19.6.1267","article-title":"Exon skipping by mutation of an authentic splice site of c-kit gene in W\/W mouse","volume":"19","author":"Hayashi","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2013.12.1090_bib29","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1182\/blood.V82.4.1151.1151","article-title":"Expression of isoforms of the human receptor tyrosine kinase c-kit in leukemic cell lines and acute myeloid leukemia","volume":"82","author":"Crosier","year":"1993","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.12.1090_bib30","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1182\/blood.V83.2.476.476","article-title":"Expression of the Kit and KitA receptor isoforms in human acute myelogenous leukemia","volume":"83","author":"Piao","year":"1994","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.12.1090_bib31","doi-asserted-by":"crossref","first-page":"57","DOI":"10.2174\/187152807780077255","article-title":"Targeting kit activation: a potential therapeutic approach in the treatment of allergic inflammation","volume":"6","author":"Jensen","year":"2007","journal-title":"Inflamm Allergy Drug Targets"},{"key":"10.1016\/j.jaci.2013.12.1090_bib32","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/cea.12045","article-title":"Heterogeneity in the responses of human lung mast cells to stem cell factor","volume":"43","author":"Lewis","year":"2013","journal-title":"Clin Exp Allergy"},{"key":"10.1016\/j.jaci.2013.12.1090_bib33","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/(SICI)1096-9896(199809)186:1<59::AID-PATH140>3.0.CO;2-J","article-title":"Human mast cells express stem cell factor","volume":"186","author":"Zhang","year":"1998","journal-title":"J Pathol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib34","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1101\/gad.1973010","article-title":"Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhinged","volume":"24","author":"David","year":"2010","journal-title":"Genes Dev"},{"key":"10.1016\/j.jaci.2013.12.1090_bib35","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.pharmthera.2012.08.005","article-title":"Alternative transcription and alternative splicing in cancer","volume":"136","author":"Pal","year":"2012","journal-title":"Pharmacol Ther"},{"key":"10.1016\/j.jaci.2013.12.1090_bib36","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.cellsig.2008.11.008","article-title":"The c-Kit\/D816V mutation eliminates the differences in signal transduction and biological responses between two isoforms of c-Kit","volume":"21","author":"Pedersen","year":"2009","journal-title":"Cell Signal"},{"key":"10.1016\/j.jaci.2013.12.1090_bib37","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/cmi.2009.108","article-title":"A novel interface consisting of homologous immunoglobulin superfamily members with multiple functions","volume":"7","author":"Xu","year":"2010","journal-title":"Cell Mol Immunol"},{"key":"10.1016\/j.jaci.2013.12.1090_bib38","doi-asserted-by":"crossref","first-page":"27190","DOI":"10.1074\/jbc.M602359200","article-title":"Mast cell costimulation by CD226\/CD112 (DNAM-1\/Nectin-2): a novel interface in the allergic process","volume":"281","author":"Bachelet","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2013.12.1090_bib39","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1111\/j.1365-2222.2007.02804.x","article-title":"Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA)","volume":"37","author":"Gonzalez de Olano","year":"2007","journal-title":"Clin Exp Allergy"},{"key":"10.1016\/j.jaci.2013.12.1090_bib40","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.1398-9995.2007.01569.x","article-title":"Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients","volume":"63","author":"Brockow","year":"2008","journal-title":"Allergy"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674914001092?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674914001092?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:46:47Z","timestamp":1758790007000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674914001092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["S0091674914001092"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2013.12.1090","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2014,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2013.12.1090","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Mosby, Inc.","name":"copyright","label":"Copyright"}]}}