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Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ

Nanthapisal, S; Omoyinmi, E; Murphy, C; Standing, A; Eisenhut, M; Eleftheriou, D; Brogan, PA; (2017) Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ. Pediatrics , 139 (1) , Article e20160781. 10.1542/peds.2016-0781. Green open access

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Abstract

Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in the context of a family history and/or consanguinity. We performed whole-exome sequencing and homozygosity mapping in the siblings presented with early-onset jSLE. A novel homozygous missense mutation in protein kinase C delta (c.1294G>T; p.Gly432Trp) was identified in both patients. One patient showed a marked clinical response and resolution inflammation with rituximab therapy. This report demonstrates the clinical importance of identifying monogenic causes of rare disease to provide a definitive diagnosis, help rationalize treatment, and facilitate genetic counseling.

Type: Article
Title: Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1542/peds.2016-0781
Publisher version: http://dx.doi.org/10.1542/peds.2016-0781
Language: English
Additional information: Copyright © 2017 by the American Academy of Pediatrics.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1534498
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