{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:32:22Z","timestamp":1791117142243,"version":"4.1.0"},"reference-count":51,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,10,4]],"date-time":"2016-10-04T00:00:00Z","timestamp":1475539200000},"content-version":"am","delay-in-days":369,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["P14093"],"award-info":[{"award-number":["P14093"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare, Japan","doi-asserted-by":"publisher","award":["H26-general-046"],"award-info":[{"award-number":["H26-general-046"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"name":"KAKENHI","award":["B [26291005]"],"award-info":[{"award-number":["B [26291005]"]}]},{"DOI":"10.13039\/501100001691","name":"JSPS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"KAKENHI","award":["15H02654"],"award-info":[{"award-number":["15H02654"]}]},{"DOI":"10.13039\/501100001691","name":"JSPS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"crossref"}]},{"name":"KAKENHI","award":["A [15H05333]"],"award-info":[{"award-number":["A [15H05333]"]}]},{"DOI":"10.13039\/501100001691","name":"JSPS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100005927","name":"Daiichi-Sankyo Foundation of Life Science","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005927","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Special Coordination Funds"},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["242551"],"award-info":[{"award-number":["242551"]}],"id":[{"id":"10.13039\/501100000781","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":[[2015,10]]},"DOI":"10.1016\/j.jaci.2015.06.007","type":"journal-article","created":{"date-parts":[[2015,8,6]],"date-time":"2015-08-06T22:25:35Z","timestamp":1438899935000},"page":"1007-1017","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":57,"title":["XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency"],"prefix":"10.1016","volume":"136","author":[{"given":"Chaowan","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Nakazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Woodbine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bj\u00f6rkman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayuko","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4292-3140","authenticated-orcid":false,"given":"Heather","family":"Fawcett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaname","family":"Ohyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao-Sheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Nagayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norisato","family":"Mitsutake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Pan-Hammarstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Gennery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan R.","family":"Lehmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny A.","family":"Jeggo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoo","family":"Ogi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2015.06.007_bib1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1146\/annurev.biochem.71.090501.150203","article-title":"V(D)J recombination: RAG proteins, repair factors, and regulation","volume":"71","author":"Gellert","year":"2002","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.jaci.2015.06.007_bib2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cell.2013.01.007","article-title":"Mechanisms of programmed DNA lesions and genomic instability in the immune system","volume":"152","author":"Alt","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/B978-0-12-394300-2.00001-6","article-title":"Classical and alternative end-joining pathways for repair of lymphocyte-specific and general DNA double-strand breaks","volume":"116","author":"Boboila","year":"2012","journal-title":"Adv Immunol"},{"key":"10.1016\/j.jaci.2015.06.007_bib4","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.dnarep.2014.01.009","article-title":"Non-homologous end joining: emerging themes and unanswered questions","volume":"17","author":"Radhakrishnan","year":"2014","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.jaci.2015.06.007_bib5","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1016\/S0960-9822(06)00258-2","article-title":"Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV","volume":"7","author":"Critchlow","year":"1997","journal-title":"Curr Biol"},{"key":"10.1016\/j.jaci.2015.06.007_bib6","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/S1097-2765(00)80147-1","article-title":"DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes","volume":"2","author":"Grawunder","year":"1998","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib7","doi-asserted-by":"crossref","first-page":"37619","DOI":"10.1074\/jbc.M109.058719","article-title":"Dual modes of interaction between XRCC4 and polynucleotide kinase\/phosphatase: implications for nonhomologous end joining","volume":"285","author":"Mani","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2015.06.007_bib8","doi-asserted-by":"crossref","first-page":"32638","DOI":"10.1074\/jbc.M111.272641","article-title":"XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair","volume":"286","author":"Hammel","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2015.06.007_bib9","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.dnarep.2014.02.009","article-title":"Structural insights into NHEJ: building up an integrated picture of the dynamic DSB repair super complex, one component and interaction at a time","volume":"17","author":"Williams","year":"2014","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.jaci.2015.06.007_bib10","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1139\/bcb-2012-0058","article-title":"XRCC4 and XLF form long helical protein filaments suitable for DNA end protection and alignment to facilitate DNA double strand break repair","volume":"91","author":"Mahaney","year":"2013","journal-title":"Biochem Cell Biol"},{"key":"10.1016\/j.jaci.2015.06.007_bib11","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1093\/nar\/gks022","article-title":"A human XRCC4-XLF complex bridges DNA","volume":"40","author":"Andres","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2015.06.007_bib12","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1042\/BST0391387","article-title":"Non-homologous end-joining partners in a helical dance: structural studies of XLF-XRCC4 interactions","volume":"39","author":"Wu","year":"2011","journal-title":"Biochem Soc Trans"},{"key":"10.1016\/j.jaci.2015.06.007_bib13","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1016\/S0960-9822(98)00021-9","article-title":"Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice","volume":"8","author":"Barnes","year":"1998","journal-title":"Curr Biol"},{"key":"10.1016\/j.jaci.2015.06.007_bib14","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/24172","article-title":"Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV","volume":"396","author":"Frank","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2015.06.007_bib15","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.molcel.2008.07.017","article-title":"Lymphocyte-specific compensation for XLF\/cernunnos end-joining functions in V(D)J recombination","volume":"31","author":"Li","year":"2008","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib16","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1016\/S1097-2765(01)00408-7","article-title":"DNA Ligase IV mutations identified in patients exhibiting development delay and immunodeficiency","volume":"8","author":"O'Driscoll","year":"2001","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib17","doi-asserted-by":"crossref","first-page":"2969","DOI":"10.1172\/JCI67349","article-title":"PRKDC mutations in a SCID patient with profound neurological abnormalities","volume":"123","author":"Woodbine","year":"2013","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2015.06.007_bib18","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.cell.2005.12.030","article-title":"Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly","volume":"124","author":"Buck","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib19","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/humu.22461","article-title":"Extreme growth failure is a common presentation of ligase IV deficiency","volume":"35","author":"Murray","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaci.2015.06.007_bib20","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.dnarep.2014.02.011","article-title":"The clinical impact of deficiency in DNA non-homologous end-joining","volume":"16","author":"Woodbine","year":"2014","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.jaci.2015.06.007_bib21","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.ajhg.2013.04.007","article-title":"Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia","volume":"92","author":"Kashiyama","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2015.06.007_bib22","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1038\/nprot.2014.194","article-title":"A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents","volume":"10","author":"Jia","year":"2015","journal-title":"Nat Protoc"},{"key":"10.1016\/j.jaci.2015.06.007_bib23","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1002\/1521-4141(200203)32:3<701::AID-IMMU701>3.0.CO;2-T","article-title":"Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells","volume":"32","author":"Verkaik","year":"2002","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2015.06.007_bib24","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20110325","article-title":"Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis","volume":"209","author":"Du","year":"2012","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2015.06.007_bib25","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/B978-0-12-380995-7.00003-3","article-title":"Mapping of switch recombination junctions, a tool for studying DNA repair pathways during immunoglobulin class switching","volume":"108","author":"Stavnezer","year":"2010","journal-title":"Adv Immunol"},{"key":"10.1016\/j.jaci.2015.06.007_bib26","doi-asserted-by":"crossref","first-page":"3622","DOI":"10.1002\/1521-4141(200112)31:12<3622::AID-IMMU3622>3.0.CO;2-H","article-title":"Regulation of switching and production of IgA in human B cells in donors with duplicated alpha1 genes","volume":"31","author":"Pan","year":"2001","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2015.06.007_bib27","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1093\/nar\/gkn957","article-title":"XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation","volume":"37","author":"Riballo","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2015.06.007_bib28","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1001\/archneur.65.8.1117","article-title":"Response of motor complications in Cockayne syndrome to carbidopa-levodopa","volume":"65","author":"Neilan","year":"2008","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jaci.2015.06.007_bib29","doi-asserted-by":"crossref","first-page":"3163","DOI":"10.1128\/MCB.01895-08","article-title":"Structural and functional interaction between the human DNA repair proteins DNA ligase IV and XRCC4","volume":"29","author":"Wu","year":"2009","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.jaci.2015.06.007_bib30","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.jmb.2003.09.031","article-title":"Tetramerization and DNA ligase IV interaction of the DNA double-strand break repair protein XRCC4 are mutually exclusive","volume":"334","author":"Modesti","year":"2003","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jaci.2015.06.007_bib31","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/S1097-2765(00)80264-6","article-title":"DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway","volume":"5","author":"Frank","year":"2000","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib32","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1084\/jem.20130168","article-title":"A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination","volume":"210","author":"Enervald","year":"2013","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2015.06.007_bib33","doi-asserted-by":"crossref","first-page":"2462","DOI":"10.1073\/pnas.0437964100","article-title":"Nonhomologous end joining and V(D)J recombination require an additional factor","volume":"100","author":"Dai","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2015.06.007_bib34","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1084\/jem.20040772","article-title":"Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells","volume":"201","author":"Pan-Hammarstrom","year":"2005","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2015.06.007_bib35","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1101\/gr.160572.113","article-title":"Genomic analysis of primordial dwarfism reveals novel disease genes","volume":"24","author":"Shaheen","year":"2014","journal-title":"Genome Res"},{"key":"10.1016\/j.jaci.2015.06.007_bib36","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1093\/hmg\/ddh274","article-title":"Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms","volume":"13","author":"Girard","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2015.06.007_bib37","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/S0960-9822(99)80311-X","article-title":"Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient","volume":"9","author":"Riballo","year":"1999","journal-title":"Curr Biol"},{"key":"10.1016\/j.jaci.2015.06.007_bib38","doi-asserted-by":"crossref","first-page":"31124","DOI":"10.1074\/jbc.M103866200","article-title":"Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity","volume":"276","author":"Riballo","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2015.06.007_bib39","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1016\/S1097-2765(01)00408-7","article-title":"DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency","volume":"8","author":"O'Driscoll","year":"2001","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib40","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/jcp.21120","article-title":"Low levels of DNA ligases III and IV sufficient for effective NHEJ","volume":"213","author":"Windhofer","year":"2007","journal-title":"J Cell Physiol"},{"key":"10.1016\/j.jaci.2015.06.007_bib41","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1146\/annurev-genet-110711-155540","article-title":"Modernizing the nonhomologous end-joining repertoire: alternative and classical NHEJ share the stage","volume":"47","author":"Deriano","year":"2013","journal-title":"Annu Rev Genet"},{"key":"10.1016\/j.jaci.2015.06.007_bib42","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/j.molcel.2014.08.002","article-title":"Chromosomal translocations in human cells are generated by canonical nonhomologous end-joining","volume":"55","author":"Ghezraoui","year":"2014","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2015.06.007_bib43","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.dnarep.2014.04.015","article-title":"DNA ligase III and DNA ligase IV carry out genetically distinct forms of end joining in human somatic cells","volume":"21","author":"Oh","year":"2014","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.jaci.2015.06.007_bib44","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/nature09604","article-title":"ATM damage response and XLF repair factor are functionally redundant in joining DNA breaks","volume":"469","author":"Zha","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2015.06.007_bib45","doi-asserted-by":"crossref","first-page":"10780","DOI":"10.1093\/nar\/gks849","article-title":"Distinct roles for DNA-PK, ATM and ATR in RPA phosphorylation and checkpoint activation in response to replication stress","volume":"40","author":"Liu","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2015.06.007_bib46","doi-asserted-by":"crossref","first-page":"6352","DOI":"10.1093\/nar\/gku295","article-title":"RAG2 mutants alter DSB repair pathway choice in\u00a0vivo and illuminate the nature of \u2018alternative NHEJ\u2019","volume":"42","author":"Gigi","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2015.06.007_bib47","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1126\/science.1261971","article-title":"DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair","volume":"347","author":"Ochi","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.jaci.2015.06.007_bib48","first-page":"3708","article-title":"Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability","volume":"24","author":"Rosin","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2015.06.007_bib49","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.ajhg.2015.01.013","article-title":"Mutations in the NHEJ component XRCC4 cause primordial dwarfism","volume":"96","author":"Murray","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2015.06.007_bib50","doi-asserted-by":"crossref","first-page":"E789","DOI":"10.1210\/jc.2015-1098","article-title":"An XRCC4 splice mutation is associated with severe short stature, gonadal failure, and early-onset metabolic syndrome","volume":"100","author":"de Bruin","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jaci.2015.06.007_bib51","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201404803","article-title":"A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy","author":"Bee","year":"2015","journal-title":"EMBO Mol Med"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S009167491500799X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S009167491500799X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:54:32Z","timestamp":1758790472000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S009167491500799X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":51,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["S009167491500799X"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2015.06.007","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency","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.2015.06.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}