An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
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Publisher
New York: Springer US
Journal title
Language
English
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Publisher
New York: Springer US
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Contents
The NLRP3 inflammasome is a vital mediator of innate immune responses. There are numerous
NLRP3
mutations that cause
NLRP3
-associated autoinflammatory diseases (
NLRP3
-AIDs), mostly in or around the NACHT domain. Here, we present a patient with a rare leucine-rich repeat (LRR) domain mutation, p.Arg920Gln (p.R920Q), associated w...
Alternative Titles
Full title
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
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TN_cdi_proquest_journals_2626113134
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2626113134
Other Identifiers
ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-021-01161-w
