Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.


Kiykim A., ÖĞÜLÜR İ. , BARIŞ S. , Salzer E., Karakoc-Aydiner E. , ÖZEN A. O. , ...More

Journal of clinical immunology, vol.35, no.6, pp.523-6, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1007/s10875-015-0178-9
  • Title of Journal : Journal of clinical immunology
  • Page Numbers: pp.523-6

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.