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.
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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.
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