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Phenotypic Variability in PRKCD: a Review of the Literature

Lucy Jefferson1, Athimalaipet Vaidyanathan Ramanan2,3, Stephen Jolles4

  • 1Department of Paediatric Immunology and Infectious Diseases Service, Bristol Royal Children's Hospital for Children, Upper Maudlin St, Bristol, BS2 8BJ, UK. lucyjefferson@nhs.net.

Journal of Clinical Immunology
|October 4, 2023
PubMed

Insights

Protein kinase C delta (PKCδ) deficiency, a rare genetic disorder, causes lupus and immune issues. Its varied symptoms highlight PKCδ's crucial role in immune defense and tolerance.

Area of Science:

  • Immunology
  • Genetics
  • Rare Diseases

Background:

  • Protein kinase C delta (PKCδ) deficiency is a rare genetic disorder.
  • It was identified as a monogenic cause of systemic lupus erythematosus in 2013.
  • The phenotype includes autoimmune lymphoproliferative syndrome-related syndromes and infection susceptibility.

Purpose of the Study:

  • To review published data on the pathophysiology, clinical presentation, investigation, and management of PKCδ deficiency.
  • To consolidate current knowledge on this rare genetic disorder.

Main Methods:

  • A literature review was performed using MEDLINE.

Main Results:

  • Twenty cases of PKCδ deficiency have been described in the literature.
  • Significant heterogeneity was observed in the clinical presentations.

Conclusions:

  • The varied clinical presentation underscores the critical role of PKCδ in immune tolerance.
  • PKCδ is essential for effective immune effector functions against pathogens.
Abstract

Keywords:
Opportunistic infectionPRKCDPrimary immunodeficienciesProtein kinase C deltaSystemic lupus erythematosus (SLE)Tolerance

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