Case report: Novel variants in RELA associated with familial Behcet’s-like disease

Abstract excerpt

RELA haploinsufficiency is a recently described autoinflammatory condition presenting with intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 protein, one of five NF-κB family transcription factors. As RELA is an essential regulator of mucosal homeostasis, haploinsufficiency leads to decreased NF-κB signaling which promotes TNF-driven mucosal apoptosis with impaired epithelial...

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• Inflammasome and immune disorders
• interferon and immune responses
• Ocular Diseases and Behçet’s Syndrome