Phenotypic Variability in PRKCD: a Review of the Literature.
J Clin Immunol
; 43(8): 1692-1705, 2023 Nov.
Article
en En
| MEDLINE
| ID: mdl-37794137
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome Linfoproliferativo Autoinmune
/
Lupus Eritematoso Sistémico
Límite:
Child
/
Humans
Idioma:
En
Revista:
J Clin Immunol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Reino Unido