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JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorsBaris, S.; Karakoc-Aydiner, E.; Ozen, A.; Delil, K.; Kiykim, A.; Ogulur, I.; Baris, I.; Barlan, I. B.
dc.date.accessioned2022-03-13T12:50:13Z
dc.date.available2022-03-13T12:50:13Z
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.identifier.doi10.1007/s10875-015-0156-2
dc.identifier.eissn1573-2592
dc.identifier.issn0271-9142
dc.identifier.pubmed25851723
dc.identifier.urihttps://hdl.handle.net/11424/238352
dc.identifier.wosWOS:000354823700003
dc.language.isoeng
dc.publisherSPRINGER/PLENUM PUBLISHERS
dc.relation.ispartofJOURNAL OF CLINICAL IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectClinical features
dc.subjectsevere congenital neutropenia
dc.subjectJAGN1
dc.subjectMUTATIONS
dc.subjectELA2
dc.titleJAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family
dc.typearticle
dspace.entity.typePublication
local.avesis.idbdacd52a-50d7-4faf-b46a-cca1d1fbe91e
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages5
oaire.citation.endPage343
oaire.citation.issue4
oaire.citation.startPage339
oaire.citation.titleJOURNAL OF CLINICAL IMMUNOLOGY
oaire.citation.volume35
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication.latestForDiscovery3e9c297b-e636-4836-8f61-dc9c8b7c29cf

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