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

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Date

2015

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SPRINGER/PLENUM PUBLISHERS

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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.

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Keywords

Protein kinase delta c, lupus-like disorders, autoimmunity, T-CELLS, INDUCED APOPTOSIS, PKC-DELTA, AUTOIMMUNITY, INVOLVEMENT, MECHANISM

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https://hdl.handle.net/11424/233519

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