Phenotypic Variability in PRKCD: a Review of the Literature
- 5 October 2023
- journal article
- review article
- Published by Springer Nature in Journal of Clinical Immunology
- Vol. 43 (8) , 1692-1705
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.Keywords
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