Title : An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7.

Pub. Date : 2022 Jan

PMID : 34671876






1 Functional Relationships(s)
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1 Here, we present a patient with a rare leucine-rich repeat (LRR) domain mutation, p.Arg920Gln (p.R920Q), associated with an atypical NLRP3-AID with recurrent episodes of sore throat and extensive oropharyngeal ulceration. Leucine NLR family pyrin domain containing 3 Homo sapiens