B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

Blood. 2013 Apr 18;121(16):3112-6. doi: 10.1182/blood-2012-10-460741. Epub 2013 Jan 14.

Abstract

Primary B-cell disorders comprise a heterogeneous group of inherited immunodeficiencies, often associated with autoimmunity causing significant morbidity. The underlying genetic etiology remains elusive in the majority of patients. In this study, we investigated a patient from a consanguineous family suffering from recurrent infections and severe lupuslike autoimmunity. Immunophenotyping revealed progressive decrease of CD19(+) B cells, a defective class switch indicated by low numbers of IgM- and IgG-memory B cells, as well as increased numbers of CD21(low) B cells. Combined homozygosity mapping and exome sequencing identified a biallelic splice-site mutation in protein C kinase δ (PRKCD), causing the absence of the corresponding protein product. Consequently, phosphorylation of myristoylated alanine-rich C kinase substrate was decreased, and mRNA levels of nuclear factor interleukin (IL)-6 and IL-6 were increased. Our study uncovers human PRKCD deficiency as a novel cause of common variable immunodeficiency-like B-cell deficiency with severe autoimmunity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antigens, CD19 / immunology
  • Autoimmunity*
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • B-Lymphocytes / pathology*
  • Child
  • Female
  • Humans
  • Immunoglobulin G / immunology
  • Immunoglobulin M / immunology
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / pathology*
  • Immunologic Deficiency Syndromes / therapy
  • Immunophenotyping
  • Male
  • Mutation*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Protein Isoforms / genetics
  • Protein Isoforms / immunology
  • Protein Kinase C-delta / genetics*
  • Protein Kinase C-delta / immunology

Substances

  • Antigens, CD19
  • Immunoglobulin G
  • Immunoglobulin M
  • Protein Isoforms
  • Protein Kinase C-delta