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Phenotypic Variability in PRKCD: a Review of the Literature

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Journal of Clinical Immunology Aims and scope Submit manuscript

Abstract

Purpose

Protein kinase C δ (PKCδ) deficiency is a rare genetic disorder identified as a monogenic cause of systemic lupus erythematosus in 2013. Since the first cases were described, the phenotype has expanded to include children presenting with autoimmune lymphoproliferative syndrome—related syndromes and infection susceptibility similar to chronic granulomatous disease or combined immunodeficiency. We review the current published data regarding the pathophysiology, clinical presentation, investigation and management of PKCδ deficiency.

Methods

Literature review was performed using MEDLINE.

Results

Twenty cases have been described in the literature with significant heterogeneity.

Conclusion

The variation in clinical presentation delineates the broad and critical role of PKCδ in immune tolerance and effector functions against pathogens.

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Data Availability

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

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Author information

Authors and Affiliations

  1. Department of Paediatric Immunology and Infectious Diseases Service, Bristol Royal Children’s Hospital for Children, Upper Maudlin St, Bristol, BS2 8BJ, UK

    Lucy Jefferson, Jolanta Bernatoniene & Marion Ruth Roderick

  2. Translational Health Sciences, University of Bristol, Bristol, UK

    Athimalaipet Vaidyanathan Ramanan & Marion Ruth Roderick

  3. Paediatric Rheumatology Service, Bristol Royal Hospital for Children, Bristol, UK

    Athimalaipet Vaidyanathan Ramanan

  4. Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, UK

    Stephen Jolles

  5. CIRI, Centre International de Recherche en Infectiologie/International Center for Infectiology Research, Inserm, U1111, Ecole Normale Supérieure de Lyon, Université Lyon 1, CNRS UMR5308, Lyon, France

    Anne-Laure Mathieu & Alexandre Belot

  6. Pediatric Nephrology, Rheumatology, Dermatology Unit, National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in children (RAISE), Hospices Civils de Lyon, 69677, Lyon, France

    Alexandre Belot

Authors
  1. Lucy Jefferson
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Contributions

LJ and MR performed the literature review and initial drafts. All authors significantly contributed to this manuscript by collecting and analysing data, preparing and editing the manuscript.

Corresponding authors

Correspondence to Lucy Jefferson, Alexandre Belot or Marion Ruth Roderick.

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Ethical Approval

No ethics approval was required for this review.

Consent for Publication

As a review of the available literature, no consent was acquired for this publication. The authors have consent from one kindred whose clinical data is currently pending publication.

Conflict of Interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The following disclosures are declared but do not directly relate to the work presented herein. SJ has received support for conferences, speaker, advisory boards, trials, data and safety monitoring boards, and projects with CSL Behring, Takeda, Swedish Orphan Biovitrum, Biotest, Binding Site, Grifols, BPL, Octapharma, LFB, Pharming, GSK, Weatherden, Zarodex, Sanofi, and UCB Pharma.

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Jefferson, L., Ramanan, A.V., Jolles, S. et al. Phenotypic Variability in PRKCD: a Review of the Literature. J Clin Immunol 43, 1692–1705 (2023). https://doi.org/10.1007/s10875-023-01579-4

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  • DOI: https://doi.org/10.1007/s10875-023-01579-4

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