Autoinflammation with episodic fever and lymphadenopathy
Definition:
Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autoinflammatory disease caused by non-cleavable RIPK1 variants. Heterozygous mutations of the RIPK1 caspase-8 cleavage site have been found to cause early-onset periodic fever episodes and severe intermittent lymphadenopathy.
References:
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[1]. Najoua Lalaoui, et al. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020 Jan;577(7788):103-108. [Content Brief]
[2]. Panfeng Tao, et al. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 2020 Jan;577(7788):109-114. [Content Brief]
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