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Publication:
JAGN1 deficient severe congenital neutropenia: two cases from the same family

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dc.contributor.coauthorBaris S.
dc.contributor.coauthorKarakoc-Aydiner E.
dc.contributor.coauthorOzen A.
dc.contributor.coauthorDelil K.
dc.contributor.coauthorKiykim A.
dc.contributor.coauthorOgulur I.
dc.contributor.coauthorBarlan I.B.
dc.contributor.departmentDepartment of Molecular Biology and Genetics
dc.contributor.facultymemberNo
dc.contributor.kuauthorBarış, İbrahim
dc.contributor.schoolcollegeinstituteCollege of Sciences
dc.date.accessioned2024-11-09T23:07:24Z
dc.date.issued2015
dc.description.abstractRecently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ2
dc.identifier.doi10.1007/s10875-015-0156-2
dc.identifier.eissn1573-2592
dc.identifier.embargoN/A
dc.identifier.endpage343
dc.identifier.issn0271-9142
dc.identifier.issue4
dc.identifier.pubmed25851723
dc.identifier.scopus2-s2.0-84929838024
dc.identifier.startpage339
dc.identifier.urihttps://doi.org/10.1007/s10875-015-0156-2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/9138
dc.identifier.volume35
dc.identifier.wos000354823700003
dc.keywordsClinical features
dc.keywordsSevere congenital neutropenia
dc.keywordsJAGN1
dc.language.isoeng
dc.publisherSpringer
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectImmunology
dc.subjectMedical genetics
dc.subjectHematology
dc.subjectPediatrics
dc.titleJAGN1 deficient severe congenital neutropenia: two cases from the same family
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorBarış, İbrahim
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