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Article

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenicRELAvariant

12 Apr 2022

Abstract excerpt

OBJECTIVE: To explore and define the molecular cause(s) of a multi-generational kindred affected by Bechet's-like mucocutaneous ulcerations and immune dysregulation. METHODS: Whole genome sequencing and confirmatory Sanger sequencing were performed. Components of the NFκB pathway were quantified by immunoblotting, and function was assessed by cytokine production (IL-6, TNF-α, IL-1β) after lipopolysaccharide (LPS)...

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Autoimmune and Inflammatory Disorders Research
NF-κB Signaling Pathways
Ocular Diseases and Behçet’s Syndrome

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35412596
DOI: 10.1093/rheumatology/keac227

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