{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:40:30Z","timestamp":1790912430991,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T00:00:00Z","timestamp":1586736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["1272517N"],"award-info":[{"award-number":["1272517N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["G080818N"],"award-info":[{"award-number":["G080818N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["G0A3218N"],"award-info":[{"award-number":["G0A3218N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["IRTG1830"],"award-info":[{"award-number":["IRTG1830"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004040","name":"KU Leuven","doi-asserted-by":"publisher","award":["C16\/17\/010"],"award-info":[{"award-number":["C16\/17\/010"]}],"id":[{"id":"10.13039\/501100004040","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004727","name":"Vlaams Instituut voor Biotechnologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004727","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BBS\/E\/B\/000C0428"],"award-info":[{"award-number":["BBS\/E\/B\/000C0428"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BBS\/E\/B\/000C0427"],"award-info":[{"award-number":["BBS\/E\/B\/000C0427"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012067","name":"Babraham Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012067","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","award":["739543"],"award-info":[{"award-number":["739543"]}],"id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["1272517N"],"award-info":[{"award-number":["1272517N"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["779295"],"award-info":[{"award-number":["779295"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["1S22716N"],"award-info":[{"award-number":["1S22716N"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["12S8918N"],"award-info":[{"award-number":["12S8918N"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["12H3319N"],"award-info":[{"award-number":["12H3319N"]}],"id":[{"id":"10.13039\/501100007601","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":[[2020,11]]},"DOI":"10.1016\/j.jaci.2020.03.034","type":"journal-article","created":{"date-parts":[[2020,4,20]],"date-time":"2020-04-20T20:32:36Z","timestamp":1587414756000},"page":"1180-1193","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":47,"title":["Defective Sec61\u03b11 underlies a novel cause of autosomal dominant severe congenital neutropenia"],"prefix":"10.1016","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9584-3198","authenticated-orcid":false,"given":"Erika","family":"Van Nieuwenhove","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John S.","family":"Barber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julika","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elien","family":"Smeets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathijs","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Pasciuto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Prezzemolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliki","family":"Lagou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Seldeslachts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Malengier-Devlies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke","family":"Metzemaekers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Ha\u00dfdenteufel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Axelle","family":"Kerstens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob","family":"van der Kant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Schymkowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Di Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Zimmermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Schlenner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Munck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Proost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Matthys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Devalck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Boeckx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Claessens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Wouters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Humblet-Baron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6272-4085","authenticated-orcid":false,"given":"Adrian","family":"Liston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2020.03.034_bib1","doi-asserted-by":"crossref","first-page":"17032","DOI":"10.1038\/nrdp.2017.32","article-title":"Severe congenital neutropenias","volume":"3","author":"Skokowa","year":"2017","journal-title":"Nat Rev Dis Prim"},{"key":"10.1016\/j.jaci.2020.03.034_bib2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1182\/blood-2006-02-004275","article-title":"Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey","volume":"109","author":"Germeshausen","year":"2019","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.03.034_bib3","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1189\/jlb.5A1016-445R","article-title":"Elastase inhibitors as potential therapies for ELANE-associated neutropenia","volume":"102","author":"Makaryan","year":"2017","journal-title":"J Leukoc Biol"},{"key":"10.1016\/j.jaci.2020.03.034_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.hoc.2012.11.003","article-title":"Epidemiology of congenital neutropenia","volume":"27","author":"Donadieu","year":"2013","journal-title":"Hematol Oncol Clin North Am"},{"key":"10.1016\/j.jaci.2020.03.034_bib5","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1365-2141.2009.07888.x","article-title":"Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS, and G6PC3 in patients with severe congenital neutropenia","volume":"147","author":"Xia","year":"2009","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jaci.2020.03.034_bib6","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1182\/blood-2006-11-057299","article-title":"Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis","volume":"110","author":"Grenda","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.03.034_bib7","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.exphem.2018.12.006","article-title":"Human iPSC-based model of severe congenital neutropenia reveals elevated UPR and DNA damage in CD34+ cells preceding leukemic transformation","volume":"71","author":"Dannenmann","year":"2019","journal-title":"Exp Hematol"},{"key":"10.1016\/j.jaci.2020.03.034_bib8","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/ng.3069","article-title":"JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia","volume":"46","author":"Boztug","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib9","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1056\/NEJMoa0805051","article-title":"A syndrome with congenital neutropenia and mutations in G6PC3","volume":"360","author":"Boztug","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.03.034_bib10","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1301296","article-title":"A congenital neutrophil defect syndrome associated with mutations in VPS45","volume":"369","author":"Vilboux","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2020.03.034_bib11","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1086\/375454","article-title":"Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport","volume":"72","author":"Kolehmainen","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib12","first-page":"1318","article-title":"Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like","volume":"132","author":"Bellann","year":"2019","journal-title":"syndrome"},{"key":"10.1016\/j.jaci.2020.03.034_bib13","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1101\/gad.623011","article-title":"Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome","volume":"25","author":"Finch","year":"2011","journal-title":"Genes Dev"},{"key":"10.1016\/j.jaci.2020.03.034_bib14","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ajhg.2016.05.002","article-title":"DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation","volume":"99","author":"Tummala","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib15","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmedgenet-2016-104366","article-title":"Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome","volume":"54","author":"Stepensky","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib16","doi-asserted-by":"crossref","first-page":"887","DOI":"10.3389\/fphys.2017.00887","article-title":"An update on Sec61 channel functions, mechanisms, and related diseases","volume":"8","author":"Lang","year":"2017","journal-title":"Front Physiol"},{"key":"10.1016\/j.jaci.2020.03.034_bib17","doi-asserted-by":"crossref","first-page":"17002","DOI":"10.1038\/sigtrans.2017.2","article-title":"Let\u2019s talk about Secs: Sec61, Sec62 and Sec63 in signal transduction, oncology and personalized medicine","volume":"2","author":"Linxweiler","year":"2017","journal-title":"Signal Transduct Target Ther"},{"key":"10.1016\/j.jaci.2020.03.034_bib18","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ng1357","article-title":"Mutations in SEC63 cause autosomal dominant polycystic liver disease","volume":"36","author":"Davila","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib19","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1172\/JCI96729","article-title":"Isolated polycystic liver disease genes define effectors of polycystin-1 function","volume":"127","author":"Besse","year":"2017","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.03.034_bib20","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.ajhg.2014.10.013","article-title":"Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration","volume":"95","author":"Synofzik","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib21","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ajhg.2016.05.028","article-title":"Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia","volume":"99","author":"Bolar","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib22","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/j.jaci.2017.06.042","article-title":"Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)","volume":"141","author":"Schubert","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.03.034_bib23","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.jaci.2018.04.008","article-title":"A kindred with mutant IKAROS and autoimmunity","volume":"142","author":"Van Nieuwenhove","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.03.034_bib24","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1093\/bioinformatics\/btu426","article-title":"YASARA View - molecular graphics for all devices - from smartphones to workstations","volume":"30","author":"Krieger","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jaci.2020.03.034_bib25","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/978-1-62703-487-6_18","article-title":"Analysis of protein translocation into the endoplasmic reticulum of human cells","volume":"1033","author":"Dudek","year":"2013","journal-title":"Methods Mol Biol"},{"issue":"pt 8","key":"10.1016\/j.jaci.2020.03.034_bib26","first-page":"1958","article-title":"Different\u00a0effects of Sec61\u03b1 , Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells","volume":"125","author":"Lang","year":"2012","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jaci.2020.03.034_bib27","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1126\/science.1178535","article-title":"Structure of monomeric yeast and mammalian sec61 complexes interacting with the translating ribosome","volume":"326","author":"Becker","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.jaci.2020.03.034_bib28","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/356453a0","article-title":"Effect of alanine versus glycine in \u03b1-helices on protein stability","volume":"4","author":"Serrano","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2020.03.034_bib29","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1126\/science.1061965","article-title":"BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF","volume":"293","author":"Thompson","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.jaci.2020.03.034_bib30","doi-asserted-by":"crossref","first-page":"2923","DOI":"10.4049\/jimmunol.1502570","article-title":"Human CD56 bright NK cells: an update","volume":"196","author":"Michel","year":"2019","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2020.03.034_bib31","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1172\/JCI90727","article-title":"Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency","volume":"127","author":"Cottineau","year":"2017","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.03.034_bib32","doi-asserted-by":"crossref","first-page":"5554","DOI":"10.1128\/MCB.01811-06","article-title":"SUMO modification regulates MafB-driven macrophage differentiation by enabling Myb-dependent transcriptional repression","volume":"27","author":"Tillmanns","year":"2007","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.jaci.2020.03.034_bib33","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1182\/blood.V92.6.1957","article-title":"The zinc finger transcription factor Egr-1 activates macrophage differentiation in M1 myeloblastic leukemia cells","volume":"92","author":"Krishnaraju","year":"1998","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2020.03.034_bib34","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.cellsig.2018.11.004","article-title":"How do chemokines navigate neutrophils to the target site: dissecting the structural mechanisms and signaling pathways","volume":"54","author":"Rajarathnam","year":"2019","journal-title":"Cell Signal"},{"key":"10.1016\/j.jaci.2020.03.034_bib35","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.phrs.2018.06.022","article-title":"NAMPT: a pleiotropic\u00a0modulator of monocytes and macrophages","volume":"135","author":"Travelli","year":"2018","journal-title":"Pharmacol Res"},{"key":"10.1016\/j.jaci.2020.03.034_bib36","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/onc.2014.6","article-title":"TMBIM protein family: ancestral regulators of cell death","volume":"34","author":"Rojas-Rivera","year":"2015","journal-title":"Oncogene"},{"key":"10.1016\/j.jaci.2020.03.034_bib37","doi-asserted-by":"crossref","first-page":"19","DOI":"10.3324\/haematol.2013.083873","article-title":"Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis","volume":"99","author":"Morishima","year":"2014","journal-title":"Haematologica"},{"key":"10.1016\/j.jaci.2020.03.034_bib38","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1097\/ACI.0000000000000014","article-title":"Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes","volume":"13","author":"Hauck","year":"2013","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2020.03.034_bib39","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1146\/annurev-immunol-030409-101259","article-title":"Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes","volume":"29","author":"Klein","year":"2011","journal-title":"Annu Rev Immunol"},{"key":"10.1016\/j.jaci.2020.03.034_bib40","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2015.211","article-title":"AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages","volume":"6","author":"Six","year":"2015","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.jaci.2020.03.034_bib41","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1172\/JCI80924","article-title":"Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells","volume":"125","author":"Nayak","year":"2015","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2020.03.034_bib42","doi-asserted-by":"crossref","first-page":"3083","DOI":"10.3389\/fimmu.2018.03083","article-title":"The C\/EBP homologous protein (CHOP) transcription factor functions in endoplasmic reticulum stress-induced apoptosis and microbial infection","volume":"9","author":"Hu","year":"2019","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2020.03.034_bib43","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.tem.2014.06.007","article-title":"Stress-responsive regulation of mitochondria through the ER unfolded protein response","volume":"25","author":"Rainbolt","year":"2014","journal-title":"Trends Endocrinol Metab"},{"key":"10.1016\/j.jaci.2020.03.034_bib44","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1038\/emboj.2013.46","article-title":"Structural features within the nascent chain regulate alternative targeting of secretory proteins to mitochondria","volume":"32","author":"Pfeiffer","year":"2013","journal-title":"EMBO"},{"key":"10.1016\/j.jaci.2020.03.034_bib45","doi-asserted-by":"crossref","first-page":"3652","DOI":"10.1016\/j.febslet.2007.04.031","article-title":"Managing and exploiting stress in the antibody factory","volume":"581","author":"Cenci","year":"2007","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jaci.2020.03.034_bib46","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.molmed.2016.12.005","article-title":"Beta-cell fragility as a common underlying risk factor in type 1 and type 2 diabetes","volume":"23","author":"Liston","year":"2017","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.jaci.2020.03.034_bib47","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.ajhg.2009.07.010","article-title":"Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure","volume":"85","author":"Zivna","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2020.03.034_bib48","doi-asserted-by":"crossref","first-page":"11601","DOI":"10.1038\/s41598-019-48014-6","article-title":"Autosomal dominant tubulointerstitial kidney disease with adult onset due to a novel renin mutation mapping in the mature protein","volume":"9","author":"Schaeffer","year":"2019","journal-title":"Sci Rep"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674920304887?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674920304887?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T15:03:08Z","timestamp":1777474988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674920304887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":48,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["S0091674920304887"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2020.03.034","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Defective Sec61\u03b11 underlies a novel cause of autosomal dominant severe congenital neutropenia","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.2020.03.034","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"}]}}