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

J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2.


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.

Keywords: Protein kinase delta c; autoimmunity; lupus-like disorders.

Publication types

  • Case Reports

MeSH terms

  • Antirheumatic Agents / administration & dosage*
  • Autoimmune Lymphoproliferative Syndrome / drug therapy
  • Autoimmune Lymphoproliferative Syndrome / genetics
  • Autoimmune Lymphoproliferative Syndrome / immunology*
  • B-Lymphocytes / immunology*
  • Child, Preschool
  • Cytomegalovirus / immunology*
  • Cytomegalovirus Infections / drug therapy
  • Cytomegalovirus Infections / immunology*
  • Humans
  • Hydroxychloroquine / administration & dosage*
  • Infant
  • Killer Cells, Natural / immunology*
  • Lupus Erythematosus, Systemic / drug therapy
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology*
  • Male
  • Mutation / genetics
  • Protein Kinase C-delta / genetics*


  • Antirheumatic Agents
  • Hydroxychloroquine
  • PRKCD protein, human
  • Protein Kinase C-delta