Functional Assessment of Disease-Associated Pyrin Variants
© 2022. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature..
The pyrin inflammasome detects effectors and toxins that inhibit RhoA GTPases and triggers inflammatory cytokines release and a fast cell death termed pyroptosis. Ancient plague pandemics in the Mediterranean basin have selected in the human population pyrin variants that can trigger an autoinflammatory disease termed familial Mediterranean fever (FMF). In addition, distinct mutations in MEFV, the gene encoding pyrin, cause a different rare autoinflammatory disease termed pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). As of today, more than 385 MEFV variants have been described although for most of them, whether they are pathogenic variant or benign polymorphism is unknown.Here, we describe different methods using primary human monocytes or engineered monocytic cell lines to functionally characterize MEFV variants, determine their potential pathogenicity, and classify them as either FMF-like or PAAND-like variants.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:2523 |
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| Enthalten in: |
Methods in molecular biology (Clifton, N.J.) - 2523(2022) vom: 27., Seite 179-195 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Chirita, Daria [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 29.06.2022 Date Revised 30.08.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.1007/978-1-0716-2449-4_12 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a The pyrin inflammasome detects effectors and toxins that inhibit RhoA GTPases and triggers inflammatory cytokines release and a fast cell death termed pyroptosis. Ancient plague pandemics in the Mediterranean basin have selected in the human population pyrin variants that can trigger an autoinflammatory disease termed familial Mediterranean fever (FMF). In addition, distinct mutations in MEFV, the gene encoding pyrin, cause a different rare autoinflammatory disease termed pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). As of today, more than 385 MEFV variants have been described although for most of them, whether they are pathogenic variant or benign polymorphism is unknown.Here, we describe different methods using primary human monocytes or engineered monocytic cell lines to functionally characterize MEFV variants, determine their potential pathogenicity, and classify them as either FMF-like or PAAND-like variants | ||
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| 650 | 4 | |a Inflammasome | |
| 650 | 4 | |a MEFV | |
| 650 | 4 | |a Pyrin | |
| 650 | 4 | |a Pyrin-associated autoinflammation with neutrophilic dermatosis | |
| 650 | 4 | |a Pyroptosis | |
| 650 | 4 | |a Real-time cell death assay | |
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| 700 | 1 | |a Henry, Thomas |e verfasserin |4 aut | |
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