Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C delta 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.523-526, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1007/s10875-015-0178-9
  • Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.523-526
  • Keywords: Protein kinase delta c, lupus-like disorders, autoimmunity, T-CELLS, INDUCED APOPTOSIS, PKC-DELTA, AUTOIMMUNITY, INVOLVEMENT, MECHANISM
  • Istanbul University-Cerrahpasa Affiliated: Yes

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.