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Published in 2021 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-021-01161-w
Abstract: 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…
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Keywords:
autoinflammatory;
lrr domain;
mutation;
domain nlrp3 ... See more keywords
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Published in 2019 at "Clinical immunology"
DOI: 10.1016/j.clim.2019.108328
Abstract: Autoinflammatory disorders are characterized by dysregulated innate immune response, resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function mutations in NLRC4 have been described to cause a range of autoinflammatory disorders. We report a twelve-year-old…
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Keywords:
likely pathogenicity;
lrr domain;
novel novo;
mutation ... See more keywords
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1
Published in 2022 at "Biochemistry"
DOI: 10.1021/acs.biochem.2c00305
Abstract: The evolutionarily conserved leucine rich repeat (LRR) protein domain is a unique structural motif found in many viral, bacterial, archaeal, and eukaryotic proteins. The LRR domain serves many roles, including being a signaling domain and…
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Keywords:
domain;
lrr domain;
candida albicans;
membrane associated ... See more keywords
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Published in 2017 at "ACS infectious diseases"
DOI: 10.1021/acsinfecdis.6b00154
Abstract: Genetic mutations in the innate immune receptor nucleotide-binding oligomerization domain-containing 2 (Nod2) have demonstrated increased susceptibility to Crohn's disease, an inflammatory bowel disease that is hypothesized to be accompanied by changes in the gut microbiota.…
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Keywords:
leucine rich;
lrr domain;
rich repeat;
muramyl dipeptide ... See more keywords