title: Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.
abstract: Protein 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.
authors.affiliation: Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey. dr_gora@yahoo.com.
authors.forename: Ayca
authors.initials: A
authors.lastname: Kiykim
authors.affiliation: Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.
authors.forename: Ismail
authors.initials: I
authors.lastname: Ogulur
authors.affiliation: Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.
authors.forename: Safa
authors.initials: S
authors.lastname: Baris
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Salzer
authors.affiliation: Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Karakoc-Aydiner
authors.affiliation: Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.
authors.forename: Ahmet Oguzhan
authors.initials: AO
authors.lastname: Ozen
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Garncarz
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Hirschmugl
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Ana
authors.initials: A
authors.lastname: Krolo
authors.affiliation: Department of Dermatology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.
authors.forename: Ayse Deniz
authors.initials: AD
authors.lastname: Yucelten
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.|Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
authors.affiliation: Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.
authors.forename: Isil B
authors.initials: IB
authors.lastname: Barlan
mesh_terms: D018501:Antirheumatic Agents / Q000008:administration & dosage*; D056735:Autoimmune Lymphoproliferative Syndrome / Q000188:drug therapy / Q000235:genetics / Q000276:immunology*; D001402:B-Lymphocytes / Q000276:immunology*; D002675:Child, Preschool; D003587:Cytomegalovirus / Q000276:immunology*; D003586:Cytomegalovirus Infections / Q000188:drug therapy / Q000276:immunology*; D006801:Humans; D006886:Hydroxychloroquine / Q000008:administration & dosage*; D007223:Infant; D007694:Killer Cells, Natural / Q000276:immunology*; D008180:Lupus Erythematosus, Systemic / Q000188:drug therapy / Q000235:genetics / Q000276:immunology*; D008297:Male; D009154:Mutation / Q000235:genetics; D051745:Protein Kinase C-delta / Q000235:genetics*
chemical_list: D018501:Antirheumatic Agents; D006886:Hydroxychloroquine; C497258:PRKCD protein, human; D051745:Protein Kinase C-delta
keywords: Protein kinase delta c; autoimmunity; lupus-like disorders