Phenotypic variability in PRKCD: a review of the literature

Jefferson, Lucy, Ramanan, Athimalaipet Vaidyanathan, Jolles, Stephen, Bernatoniene, Jolanta, Mathieu, Anne-Laure, Belot, Alexandre and Roderick, Marion Ruth 2023. Phenotypic variability in PRKCD: a review of the literature. Journal of Clinical Immunology 43 , pp. 1692-1705. 10.1007/s10875-023-01579-4

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Springer
ISSN:	0271-9142
Funders:	N/A
Date of Acceptance:	28 August 2023
Last Modified:	22 Nov 2023 14:51
URI:	https://orca.cardiff.ac.uk/id/eprint/163078

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