Publication:
Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C delta Deficiency

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorsKiykim, Ayca; Ogulur, Ismail; Baris, Safa; Salzer, Elisabeth; Karakoc-Aydiner, Elif; Ozen, Ahmet Oguzhan; Garncarz, Wojciech; Hirschmugl, Tatjana; Krolo, Ana; Yucelten, Ayse Deniz; Boztug, Kaan; Barlan, Isil B.
dc.date.accessioned2022-03-12T20:26:41Z
dc.date.available2022-03-12T20:26:41Z
dc.date.issued2015
dc.description.abstractProtein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic activity. Human PRKCD deficiency was recently identified to be causative for an autoimmune lymphoproliferative syndrome like disorder with significant B-cell proliferation particularly of immature B cells. Here we report a child with a novel mutation in PRKCD gene who presented with CMV infection and an early onset SLE-like disorder which was successfully treated with hydroxychloroquine.
dc.identifier.doi10.1007/s10875-015-0178-9
dc.identifier.eissn1573-2592
dc.identifier.issn0271-9142
dc.identifier.pubmed26233237
dc.identifier.urihttps://hdl.handle.net/11424/233519
dc.identifier.wosWOS:000361524700003
dc.language.isoeng
dc.publisherSPRINGER/PLENUM PUBLISHERS
dc.relation.ispartofJOURNAL OF CLINICAL IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectProtein kinase delta c
dc.subjectlupus-like disorders
dc.subjectautoimmunity
dc.subjectT-CELLS
dc.subjectINDUCED APOPTOSIS
dc.subjectPKC-DELTA
dc.subjectAUTOIMMUNITY
dc.subjectINVOLVEMENT
dc.subjectMECHANISM
dc.titlePotentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C delta Deficiency
dc.typearticle
dspace.entity.typePublication
local.avesis.idd7403db1-577a-4c80-95be-82f38e53cfd2
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages4
oaire.citation.endPage526
oaire.citation.issue6
oaire.citation.startPage523
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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