{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T08:41:54Z","timestamp":1770280914300,"version":"3.49.0"},"reference-count":11,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T00:00:00Z","timestamp":1607472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000282","name":"Sir Jules Thorn Charitable Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000282","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2021,6]]},"DOI":"10.1016\/j.jaci.2020.11.025","type":"journal-article","created":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T19:22:57Z","timestamp":1607023377000},"page":"2381-2385.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2"],"prefix":"10.1016","volume":"147","author":[{"given":"Ina","family":"Schim van der Loeff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelien G.G.","family":"Sprenkeler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anton T.J.","family":"Tool","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Abinun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Grainger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin R.","family":"Engelhardt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"van Houdt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taco W.","family":"Kuijpers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7954-3267","authenticated-orcid":false,"given":"Sophie","family":"Hambleton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2020.11.025_bib1","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1084\/jem.189.11.1847","article-title":"Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT\/enhancer binding protein epsilon","volume":"189","author":"Lekstrom-Himes","year":"1999","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2020.11.025_bib2","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1182\/blood.V97.9.2561","article-title":"Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT\/enhancer binding protein--epsilon","volume":"97","author":"Gombart","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.11.025_bib3","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1038\/ng.3833","article-title":"Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes","volume":"49","author":"Witzel","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.11.025_bib4","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/ng.3812","article-title":"SMARCD2 subunit of SWI\/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBP\u03b5 dependent mechanism","volume":"49","author":"Priam","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.11.025_bib5","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1016\/j.celrep.2018.08.018","article-title":"Dynamics of transcription regulation in human bone marrow myeloid differentiation to mature blood neutrophils","volume":"24","author":"Grassi","year":"2018","journal-title":"Cell Rep"},{"key":"10.1016\/j.jaci.2020.11.025_bib6","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1056\/NEJM197402282900903","article-title":"An anomaly of neutrophil morphology with impaired function","volume":"290","author":"Strauss","year":"1974","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.11.025_bib7","doi-asserted-by":"crossref","first-page":"3529","DOI":"10.1182\/blood-2006-05-021402","article-title":"Natural history and early diagnosis of LAD-1\/variant syndrome","volume":"109","author":"Kuijpers","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.11.025_bib8","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1182\/blood-2013-03-494039","article-title":"Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2\/Munc18-2 mutations","volume":"122","author":"Zhao","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.11.025_bib9","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.jaci.2016.09.061","article-title":"Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency","volume":"140","author":"Kuijpers","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.11.025_bib10","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1002\/jlb.39.6.699","article-title":"Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test","volume":"39","author":"Meerhof","year":"1986","journal-title":"J Leukoc Biol"},{"key":"10.1016\/j.jaci.2020.11.025_bib11","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1182\/blood.2019002633","article-title":"MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization","volume":"135","author":"Sprenkeler","year":"2020","journal-title":"Blood"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674920316985?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674920316985?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:30:57Z","timestamp":1758792657000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674920316985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["S0091674920316985"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2020.11.025","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2","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.2020.11.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology.","name":"copyright","label":"Copyright"}]}}