Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants

Frontiers in Immunology
Judit DanisNikoletta Nagy

Abstract

Pityriasis rubra pilaris (PRP) is a rare papulosquamous skin disorder, which is phenotypically related to psoriasis. Some familial PRP cases show autosomal dominant inheritance due to CARD14 mutations leading to increased nuclear factor κB (NFκB) activation. Moreover, CARD14 polymorphisms have also been implicated in sporadic PRP. A Hungarian PRP patient with childhood onset disease showing worsening of the symptoms in adulthood with poor therapeutic response underwent genetic screening for the CARD14 gene, revealing four genetic variants (rs117918077, rs2066964, rs28674001, and rs11652075). To confirm that the identified genetic variants would result in altered NFκB activity in the patient, functional studies were carried out. Immunofluorescent staining of the NFκB p65 subunit and NFκB-luciferase reporter assay demonstrated significantly increased NFκB activity in skin samples and keratinocytes from the PRP patient compared to healthy samples. Characterization of the cytokine profile of the keratinocytes and peripheral blood mononuclear cells demonstrated that the higher NFκB activation in PRP cells induces enhanced responses to inflammatory stimuli. These higher inflammatory reactions could not be explained solely by the obse...Continue Reading

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Citations

Jan 31, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·B GálZ Bata-Csörgő
Nov 6, 2018·Frontiers in Immunology·Laura Israel, Mark Mellett
Jul 17, 2021·The Journal of Allergy and Clinical Immunology·Stanley B DeVoreGurjit K Khurana Hershey

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Methods Mentioned

BETA
ELISA
density-gradient centrifugation
biopsies
transfection
Assay
flow cytometry
exome sequencing

Software Mentioned

UCSC Genome Browser
SIFT
PolyPhen
PROVEAN
ImageJ

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