Skip to main content
Top
Published in: Journal of Clinical Immunology 3/2019

01-04-2019 | Cytokines | CME Review

CAPS and NLRP3

Authors: Laela M. Booshehri, Hal M. Hoffman

Published in: Journal of Clinical Immunology | Issue 3/2019

Login to get access

Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disorder characterized by systemic, cutaneous, musculoskeletal, and central nervous system inflammation. Gain-of-function mutations in NLRP3 in CAPS patients lead to activation of the cryopyrin inflammasome, resulting in the inappropriate release of inflammatory cytokines including IL-1β and CAPS-related inflammatory symptoms. Several mechanisms have been identified that are important for the normal regulation of the cryopyrin inflammasome in order to prevent uncontrolled inflammation. Investigators have taken advantage of some of these pathways to develop and apply novel targeted therapies, which have resulted in improved quality of life for patients with this orphan disease.
Literature
1.
go back to reference Kile RM, Rusk HA. A case of cold urticaria with an unusual family history. JAMA. 1940;114:1067–8. Kile RM, Rusk HA. A case of cold urticaria with an unusual family history. JAMA. 1940;114:1067–8.
2.
go back to reference Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108(4):615–20.CrossRefPubMedPubMedCentral Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108(4):615–20.CrossRefPubMedPubMedCentral
3.
go back to reference Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235–48.PubMed Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235–48.PubMed
4.
go back to reference Prieur AM, Griscelli C. Chronic meningo-cutaneo-articular syndrome in children. Rev Rhum Mal Osteoartic. 1980;47(11):645–9.PubMed Prieur AM, Griscelli C. Chronic meningo-cutaneo-articular syndrome in children. Rev Rhum Mal Osteoartic. 1980;47(11):645–9.PubMed
5.
go back to reference Hassink SG, Goldsmith DP. Neonatal onset multisystem inflammatory disease. Arthritis Rheum. 1983;26(5):668–73.CrossRefPubMed Hassink SG, Goldsmith DP. Neonatal onset multisystem inflammatory disease. Arthritis Rheum. 1983;26(5):668–73.CrossRefPubMed
6.
go back to reference Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56(4):1273–85.CrossRefPubMedPubMedCentral Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56(4):1273–85.CrossRefPubMedPubMedCentral
7.
go back to reference Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011;70(3):495–9.CrossRefPubMed Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011;70(3):495–9.CrossRefPubMed
8.
go back to reference Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, et al. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum Genet. 2003;112(2):209–16.PubMed Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, et al. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum Genet. 2003;112(2):209–16.PubMed
9.
go back to reference Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, et al. Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010;62(1):258–67.CrossRefPubMed Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, et al. Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010;62(1):258–67.CrossRefPubMed
10.
go back to reference Stych B, Dobrovolny D. Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients’ lives. Curr Med Res Opin. 2008 Jun;24(6):1577–82.CrossRefPubMed Stych B, Dobrovolny D. Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients’ lives. Curr Med Res Opin. 2008 Jun;24(6):1577–82.CrossRefPubMed
11.
go back to reference Gerbig AW, Dahinden CA, Mullis P, Hunziker T. Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? Q J Med. 1998;91(7):489–92.CrossRef Gerbig AW, Dahinden CA, Mullis P, Hunziker T. Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? Q J Med. 1998;91(7):489–92.CrossRef
12.
go back to reference Cekic S, Yalcinbayir O, Kilic SS. Ocular involvement in Muckle-Wells syndrome. Ocul Immunol Inflamm. 2018;17:1–9.CrossRef Cekic S, Yalcinbayir O, Kilic SS. Ocular involvement in Muckle-Wells syndrome. Ocul Immunol Inflamm. 2018;17:1–9.CrossRef
13.
go back to reference Dollfus H, Hafner R, Hofmann HM, Russo RA, Denda L, Gonzales LD, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol. 2000;118(10):1386–92.CrossRefPubMed Dollfus H, Hafner R, Hofmann HM, Russo RA, Denda L, Gonzales LD, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol. 2000;118(10):1386–92.CrossRefPubMed
14.
go back to reference Hill SC, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol. 2007;37(2):145–52.CrossRefPubMed Hill SC, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol. 2007;37(2):145–52.CrossRefPubMed
15.
go back to reference Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004;364(9447):1779–85.CrossRefPubMedPubMedCentral Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004;364(9447):1779–85.CrossRefPubMedPubMedCentral
16.
go back to reference Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581–92.CrossRefPubMedPubMedCentral Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581–92.CrossRefPubMedPubMedCentral
17.
go back to reference McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–44.CrossRefPubMed McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–44.CrossRefPubMed
18.
go back to reference Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum. 2002;46(9):2445–52.CrossRefPubMed Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum. 2002;46(9):2445–52.CrossRefPubMed
19.
go back to reference Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70(6):1498–506.CrossRefPubMedPubMedCentral Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70(6):1498–506.CrossRefPubMedPubMedCentral
20.
go back to reference Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301–5.CrossRefPubMedPubMedCentral Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301–5.CrossRefPubMedPubMedCentral
21.
go back to reference Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12):3340–8.CrossRefPubMedPubMedCentral Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12):3340–8.CrossRefPubMedPubMedCentral
22.
go back to reference Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71(1):198–203.CrossRefPubMedPubMedCentral Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71(1):198–203.CrossRefPubMedPubMedCentral
23.
go back to reference Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008;111(4):2132–41.CrossRefPubMed Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008;111(4):2132–41.CrossRefPubMed
24.
go back to reference McGeough MD, Wree A, Inzaugarat ME, Haimovich A, Johnson CD, Pena CA, et al. TNF regulates transcription of NLRP3 inflammasome components and inflammatory molecules in cryopyrinopathies. J Clin Invest. 2017;127(12):4488–97.CrossRefPubMedPubMedCentral McGeough MD, Wree A, Inzaugarat ME, Haimovich A, Johnson CD, Pena CA, et al. TNF regulates transcription of NLRP3 inflammasome components and inflammatory molecules in cryopyrinopathies. J Clin Invest. 2017;127(12):4488–97.CrossRefPubMedPubMedCentral
25.
go back to reference Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004;24(3):194–8.CrossRefPubMed Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004;24(3):194–8.CrossRefPubMed
26.
go back to reference Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008;29(6):803–8.CrossRefPubMed Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008;29(6):803–8.CrossRefPubMed
27.
go back to reference Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I. INFEVERS: The registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res. 2003;31(1):282–5.CrossRefPubMedPubMedCentral Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I. INFEVERS: The registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res. 2003;31(1):282–5.CrossRefPubMedPubMedCentral
28.
go back to reference Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, et al. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). J Med Genet. 2018;55(8):530–7.CrossRefPubMed Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, et al. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). J Med Genet. 2018;55(8):530–7.CrossRefPubMed
29.
go back to reference Kuemmerle-Deschner JB, Verma D, Endres T, Broderick L, de Jesus AA, Hofer F, et al. Clinical and molecular phenotypes of low-penetrance variants of NLRP3: diagnostic and therapeutic challenges. Arthritis Rheumatol. 2017;69(11):2233–40.CrossRefPubMed Kuemmerle-Deschner JB, Verma D, Endres T, Broderick L, de Jesus AA, Hofer F, et al. Clinical and molecular phenotypes of low-penetrance variants of NLRP3: diagnostic and therapeutic challenges. Arthritis Rheumatol. 2017;69(11):2233–40.CrossRefPubMed
30.
go back to reference Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Soderkvist P, Sarndahl E. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? Arthritis Rheum. 2008;58(3):888–94.CrossRefPubMed Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Soderkvist P, Sarndahl E. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? Arthritis Rheum. 2008;58(3):888–94.CrossRefPubMed
31.
32.
go back to reference Broderick L, De Nardo D, Franklin BS, Hoffman HM, Latz E. The inflammasomes and autoinflammatory syndromes. Annu Rev Pathol. 2015;10:395–424.CrossRefPubMed Broderick L, De Nardo D, Franklin BS, Hoffman HM, Latz E. The inflammasomes and autoinflammatory syndromes. Annu Rev Pathol. 2015;10:395–424.CrossRefPubMed
33.
go back to reference Srinivasula SM, Poyet JL, Razmara M, Datta P, Zhang Z, Alnemri ES. The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. J Biol Chem. 2002;277(24):21119–22.CrossRefPubMed Srinivasula SM, Poyet JL, Razmara M, Datta P, Zhang Z, Alnemri ES. The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. J Biol Chem. 2002;277(24):21119–22.CrossRefPubMed
34.
go back to reference Dowds TA, Masumoto J, Zhu L, Inohara N, Nunez G. Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. J Biol Chem. 2004;279(21):21924–8.CrossRefPubMed Dowds TA, Masumoto J, Zhu L, Inohara N, Nunez G. Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. J Biol Chem. 2004;279(21):21924–8.CrossRefPubMed
35.
go back to reference Gumucio DL, Diaz A, Schaner P, Richards N, Babcock C, Schaller M, et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol. 2002;20(4 Suppl 26):S45–53.PubMed Gumucio DL, Diaz A, Schaner P, Richards N, Babcock C, Schaller M, et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol. 2002;20(4 Suppl 26):S45–53.PubMed
36.
go back to reference Manji GA, Wang L, Geddes BJ, Brown M, Merriam S, Al-Garawi A, et al. PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. J Biol Chem. 2002;277(13):11570–5.CrossRefPubMed Manji GA, Wang L, Geddes BJ, Brown M, Merriam S, Al-Garawi A, et al. PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. J Biol Chem. 2002;277(13):11570–5.CrossRefPubMed
37.
go back to reference Masumoto J, Taniguchi S, Ayukawa K, Sarvotham H, Kishino T, Niikawa N, et al. ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem. 1999;274(48):33835–8.CrossRefPubMed Masumoto J, Taniguchi S, Ayukawa K, Sarvotham H, Kishino T, Niikawa N, et al. ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem. 1999;274(48):33835–8.CrossRefPubMed
38.
go back to reference Baroja-Mazo A, Martin-Sanchez F, Gomez AI, Martinez CM, Amores-Iniesta J, Compan V, et al. The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. Nat Immunol. 2014;15(8):738–48.CrossRefPubMed Baroja-Mazo A, Martin-Sanchez F, Gomez AI, Martinez CM, Amores-Iniesta J, Compan V, et al. The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. Nat Immunol. 2014;15(8):738–48.CrossRefPubMed
39.
go back to reference Franklin BS, Bossaller L, De Nardo D, Ratter JM, Stutz A, Engels G, et al. The adaptor ASC has extracellular and ‘prionoid’ activities that propagate inflammation. Nat Immunol. 2014;15(8):727–37.CrossRefPubMedPubMedCentral Franklin BS, Bossaller L, De Nardo D, Ratter JM, Stutz A, Engels G, et al. The adaptor ASC has extracellular and ‘prionoid’ activities that propagate inflammation. Nat Immunol. 2014;15(8):727–37.CrossRefPubMedPubMedCentral
40.
go back to reference Latz E, Xiao TS, Stutz A. Activation and regulation of the inflammasomes. Nat Rev Immunol. 2013;13(6):397–411.CrossRefPubMed Latz E, Xiao TS, Stutz A. Activation and regulation of the inflammasomes. Nat Rev Immunol. 2013;13(6):397–411.CrossRefPubMed
41.
go back to reference Kayagaki N, Stowe IB, Lee BL, O’Rourke K, Anderson K, Warming S, et al. Caspase-11 cleaves gasdermin D for non-canonical inflammasome signalling. Nature. 2015;526(7575):666–71.CrossRefPubMed Kayagaki N, Stowe IB, Lee BL, O’Rourke K, Anderson K, Warming S, et al. Caspase-11 cleaves gasdermin D for non-canonical inflammasome signalling. Nature. 2015;526(7575):666–71.CrossRefPubMed
42.
go back to reference Fink SL, Cookson BT. Apoptosis, pyroptosis, and necrosis: mechanistic description of dead and dying eukaryotic cells. Infect Immun. 2005;73(4):1907–16.CrossRefPubMedPubMedCentral Fink SL, Cookson BT. Apoptosis, pyroptosis, and necrosis: mechanistic description of dead and dying eukaryotic cells. Infect Immun. 2005;73(4):1907–16.CrossRefPubMedPubMedCentral
43.
go back to reference He WT, Wan H, Hu L, Chen P, Wang X, Huang Z, et al. Gasdermin D is an executor of pyroptosis and required for interleukin-1beta secretion. Cell Res. 2015;25(12):1285–98.CrossRefPubMedPubMedCentral He WT, Wan H, Hu L, Chen P, Wang X, Huang Z, et al. Gasdermin D is an executor of pyroptosis and required for interleukin-1beta secretion. Cell Res. 2015;25(12):1285–98.CrossRefPubMedPubMedCentral
44.
go back to reference Shi J, Zhao Y, Wang K, Shi X, Wang Y, Huang H, et al. Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death. Nature. 2015;526(7575):660–5.CrossRefPubMed Shi J, Zhao Y, Wang K, Shi X, Wang Y, Huang H, et al. Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death. Nature. 2015;526(7575):660–5.CrossRefPubMed
45.
go back to reference Chamaillard M, Girardin SE, Viala J, Philpott DJ. Nods, Nalps and Naip: intracellular regulators of bacterial-induced inflammation. Cell Microbiol. 2003;5(9):581–92.CrossRefPubMed Chamaillard M, Girardin SE, Viala J, Philpott DJ. Nods, Nalps and Naip: intracellular regulators of bacterial-induced inflammation. Cell Microbiol. 2003;5(9):581–92.CrossRefPubMed
46.
go back to reference Inohara N, Ogura Y, Nunez G. Nods: a family of cytosolic proteins that regulate the host response to pathogens. Curr Opin Microbiol. 2002;5(1):76–80.CrossRefPubMed Inohara N, Ogura Y, Nunez G. Nods: a family of cytosolic proteins that regulate the host response to pathogens. Curr Opin Microbiol. 2002;5(1):76–80.CrossRefPubMed
47.
go back to reference Barbera-Cremades M, Baroja-Mazo A, Gomez AI, Machado F, Di Virgilio F, Pelegrin P. P2X7 receptor-stimulation causes fever via PGE2 and IL-1beta release. FASEB J. 2012;26(7):2951–62.CrossRefPubMed Barbera-Cremades M, Baroja-Mazo A, Gomez AI, Machado F, Di Virgilio F, Pelegrin P. P2X7 receptor-stimulation causes fever via PGE2 and IL-1beta release. FASEB J. 2012;26(7):2951–62.CrossRefPubMed
49.
go back to reference Zhong Z, Liang S, Sanchez-Lopez E, He F, Shalapour S, Lin XJ, et al. New mitochondrial DNA synthesis enables NLRP3 inflammasome activation. Nature. 2018;560(7717):198–203.CrossRefPubMedPubMedCentral Zhong Z, Liang S, Sanchez-Lopez E, He F, Shalapour S, Lin XJ, et al. New mitochondrial DNA synthesis enables NLRP3 inflammasome activation. Nature. 2018;560(7717):198–203.CrossRefPubMedPubMedCentral
50.
go back to reference Haneklaus M, O’Neil JD, Clark AR, Masters SL, O’Neill LAJ. The RNA-binding protein tristetraprolin (TTP) is a critical negative regulator of the NLRP3 inflammasome. J Biol Chem. 2017;292(17):6869–81.CrossRefPubMedPubMedCentral Haneklaus M, O’Neil JD, Clark AR, Masters SL, O’Neill LAJ. The RNA-binding protein tristetraprolin (TTP) is a critical negative regulator of the NLRP3 inflammasome. J Biol Chem. 2017;292(17):6869–81.CrossRefPubMedPubMedCentral
51.
go back to reference Neudecker V, Haneklaus M, Jensen O, Khailova L, Masterson JC, Tye H, et al. Myeloid-derived miR-223 regulates intestinal inflammation via repression of the NLRP3 inflammasome. J Exp Med. 2017;214(6):1737–52.CrossRefPubMedPubMedCentral Neudecker V, Haneklaus M, Jensen O, Khailova L, Masterson JC, Tye H, et al. Myeloid-derived miR-223 regulates intestinal inflammation via repression of the NLRP3 inflammasome. J Exp Med. 2017;214(6):1737–52.CrossRefPubMedPubMedCentral
52.
go back to reference Song N, Liu ZS, Xue W, Bai ZF, Wang QY, Dai J, et al. NLRP3 phosphorylation is an essential priming event for Inflammasome activation. Mol Cell. 2017;68(1):185–97 e6.CrossRefPubMed Song N, Liu ZS, Xue W, Bai ZF, Wang QY, Dai J, et al. NLRP3 phosphorylation is an essential priming event for Inflammasome activation. Mol Cell. 2017;68(1):185–97 e6.CrossRefPubMed
53.
go back to reference Stutz A, Kolbe CC, Stahl R, Horvath GL, Franklin BS, van Ray O, et al. NLRP3 inflammasome assembly is regulated by phosphorylation of the pyrin domain. J Exp Med. 2017;214(6):1725–36.CrossRefPubMedPubMedCentral Stutz A, Kolbe CC, Stahl R, Horvath GL, Franklin BS, van Ray O, et al. NLRP3 inflammasome assembly is regulated by phosphorylation of the pyrin domain. J Exp Med. 2017;214(6):1725–36.CrossRefPubMedPubMedCentral
54.
go back to reference Hernandez-Cuellar E, Tsuchiya K, Hara H, Fang R, Sakai S, Kawamura I, et al. Cutting edge: nitric oxide inhibits the NLRP3 inflammasome. J Immunol. 2012;189(11):5113–7.CrossRefPubMed Hernandez-Cuellar E, Tsuchiya K, Hara H, Fang R, Sakai S, Kawamura I, et al. Cutting edge: nitric oxide inhibits the NLRP3 inflammasome. J Immunol. 2012;189(11):5113–7.CrossRefPubMed
55.
go back to reference Juliana C, Fernandes-Alnemri T, Kang S, Farias A, Qin F, Alnemri ES. Non-transcriptional priming and deubiquitination regulate NLRP3 inflammasome activation. J Biol Chem. 2012;287(43):36617–22.CrossRefPubMedPubMedCentral Juliana C, Fernandes-Alnemri T, Kang S, Farias A, Qin F, Alnemri ES. Non-transcriptional priming and deubiquitination regulate NLRP3 inflammasome activation. J Biol Chem. 2012;287(43):36617–22.CrossRefPubMedPubMedCentral
56.
go back to reference Kawashima A, Karasawa T, Tago K, Kimura H, Kamata R, Usui-Kawanishi F, et al. ARIH2 ubiquitinates NLRP3 and negatively regulates NLRP3 inflammasome activation in macrophages. J Immunol. 2017;199(10):3614–22.CrossRefPubMed Kawashima A, Karasawa T, Tago K, Kimura H, Kamata R, Usui-Kawanishi F, et al. ARIH2 ubiquitinates NLRP3 and negatively regulates NLRP3 inflammasome activation in macrophages. J Immunol. 2017;199(10):3614–22.CrossRefPubMed
57.
go back to reference Song H, Liu B, Huai W, Yu Z, Wang W, Zhao J, et al. The E3 ubiquitin ligase TRIM31 attenuates NLRP3 inflammasome activation by promoting proteasomal degradation of NLRP3. Nat Commun. 2016;7:13727.CrossRefPubMedPubMedCentral Song H, Liu B, Huai W, Yu Z, Wang W, Zhao J, et al. The E3 ubiquitin ligase TRIM31 attenuates NLRP3 inflammasome activation by promoting proteasomal degradation of NLRP3. Nat Commun. 2016;7:13727.CrossRefPubMedPubMedCentral
58.
go back to reference Dinarello CA. Overview of the interleukin-1 family of ligands and receptors. Semin Immunol. 2013;25(6):389–93.CrossRefPubMed Dinarello CA. Overview of the interleukin-1 family of ligands and receptors. Semin Immunol. 2013;25(6):389–93.CrossRefPubMed
59.
go back to reference Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20(3):319–25.CrossRefPubMed Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20(3):319–25.CrossRefPubMed
60.
go back to reference Tassi S, Carta S, Delfino L, Caorsi R, Martini A, Gattorno M, et al. Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion. Proc Natl Acad Sci U S A. 2010;107(21):9789–94.CrossRefPubMedPubMedCentral Tassi S, Carta S, Delfino L, Caorsi R, Martini A, Gattorno M, et al. Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion. Proc Natl Acad Sci U S A. 2010;107(21):9789–94.CrossRefPubMedPubMedCentral
61.
go back to reference Rosengren S, Mueller JL, Anderson JP, Niehaus BL, Misaghi A, Anderson S, et al. Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. J Allergy Clin Immunol. 2007;119(4):991–6.CrossRefPubMedPubMedCentral Rosengren S, Mueller JL, Anderson JP, Niehaus BL, Misaghi A, Anderson S, et al. Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. J Allergy Clin Immunol. 2007;119(4):991–6.CrossRefPubMedPubMedCentral
62.
go back to reference Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, et al. Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity. 2009;30(6):875–87.CrossRefPubMedPubMedCentral Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, et al. Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity. 2009;30(6):875–87.CrossRefPubMedPubMedCentral
63.
go back to reference Meng G, Zhang F, Fuss I, Kitani A, Strober W. A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses. Immunity. 2009;30(6):860–74.CrossRefPubMedPubMedCentral Meng G, Zhang F, Fuss I, Kitani A, Strober W. A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses. Immunity. 2009;30(6):860–74.CrossRefPubMedPubMedCentral
64.
go back to reference Bonar SL, Brydges SD, Mueller JL, McGeough MD, Pena C, Chen D, et al. Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice. PLoS One. 2012;7(4):e35979.CrossRefPubMedPubMedCentral Bonar SL, Brydges SD, Mueller JL, McGeough MD, Pena C, Chen D, et al. Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice. PLoS One. 2012;7(4):e35979.CrossRefPubMedPubMedCentral
65.
go back to reference Brydges SD, Broderick L, McGeough MD, Pena CA, Mueller JL, Hoffman HM. Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies. J Clin Invest. 2013;123(11):4695–705.CrossRefPubMedPubMedCentral Brydges SD, Broderick L, McGeough MD, Pena CA, Mueller JL, Hoffman HM. Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies. J Clin Invest. 2013;123(11):4695–705.CrossRefPubMedPubMedCentral
66.
go back to reference McGeough MD, Pena CA, Mueller JL, Pociask DA, Broderick L, Hoffman HM, et al. Cutting edge: IL-6 is a marker of inflammation with no direct role in inflammasome-mediated mouse models. J Immunol. 2012;189(6):2707–11.CrossRefPubMedPubMedCentral McGeough MD, Pena CA, Mueller JL, Pociask DA, Broderick L, Hoffman HM, et al. Cutting edge: IL-6 is a marker of inflammation with no direct role in inflammasome-mediated mouse models. J Immunol. 2012;189(6):2707–11.CrossRefPubMedPubMedCentral
67.
go back to reference Wree A, McGeough MD, Inzaugarat ME, Eguchi A, Schuster S, Johnson CD, et al. NLRP3 inflammasome driven liver injury and fibrosis: roles of IL-17 and TNF in mice. Hepatology. 2017;67(2):736–49.CrossRefPubMedPubMedCentral Wree A, McGeough MD, Inzaugarat ME, Eguchi A, Schuster S, Johnson CD, et al. NLRP3 inflammasome driven liver injury and fibrosis: roles of IL-17 and TNF in mice. Hepatology. 2017;67(2):736–49.CrossRefPubMedPubMedCentral
68.
go back to reference Nakamura Y, Franchi L, Kambe N, Meng G, Strober W, Nunez G. Critical role for mast cells in interleukin-1beta-driven skin inflammation associated with an activating mutation in the nlrp3 protein. Immunity. 2012;37(1):85–95.CrossRefPubMedPubMedCentral Nakamura Y, Franchi L, Kambe N, Meng G, Strober W, Nunez G. Critical role for mast cells in interleukin-1beta-driven skin inflammation associated with an activating mutation in the nlrp3 protein. Immunity. 2012;37(1):85–95.CrossRefPubMedPubMedCentral
69.
go back to reference Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim KY, et al. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Exp Med. 2011;208(3):519–33.CrossRefPubMedPubMedCentral Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim KY, et al. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Exp Med. 2011;208(3):519–33.CrossRefPubMedPubMedCentral
70.
go back to reference Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, et al. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci. 2010;107(21):9801–6.CrossRefPubMed Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, et al. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci. 2010;107(21):9801–6.CrossRefPubMed
71.
go back to reference Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003;348(25):2583–4.CrossRefPubMed Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003;348(25):2583–4.CrossRefPubMed
72.
go back to reference Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142(12):1591–7.CrossRefPubMed Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142(12):1591–7.CrossRefPubMed
73.
go back to reference Ross JB, Finlayson LA, Klotz PJ, Langley RG, Gaudet R, Thompson K, et al. Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. J Cutan Med Surg. 2008;12(1):8–16.CrossRefPubMed Ross JB, Finlayson LA, Klotz PJ, Langley RG, Gaudet R, Thompson K, et al. Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. J Cutan Med Surg. 2008;12(1):8–16.CrossRefPubMed
74.
go back to reference Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, et al. Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58(8):2443–52.CrossRefPubMed Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, et al. Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58(8):2443–52.CrossRefPubMed
75.
go back to reference Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360(23):2416–25.CrossRefPubMed Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360(23):2416–25.CrossRefPubMed
76.
go back to reference Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13(2):123–31.CrossRefPubMedPubMedCentral Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13(2):123–31.CrossRefPubMedPubMedCentral
77.
go back to reference Hoffman HM, Throne ML, Amar NJ, Cartwright RC, Kivitz AJ, Soo Y, et al. Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study. Clin Ther. 2012;34(10):2091–103.CrossRefPubMed Hoffman HM, Throne ML, Amar NJ, Cartwright RC, Kivitz AJ, Soo Y, et al. Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study. Clin Ther. 2012;34(10):2091–103.CrossRefPubMed
78.
go back to reference Kuemmerle-Deschner J, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weissbarth-Riedelet E, et al. Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome. Rheumatology. 2016;55(4):689–96.CrossRefPubMed Kuemmerle-Deschner J, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weissbarth-Riedelet E, et al. Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome. Rheumatology. 2016;55(4):689–96.CrossRefPubMed
79.
go back to reference Caorsi R, Lepore L, Zulian F, Alessio M, Stabile A, Insalaco A, et al. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. Arthritis Res Ther. 2013;15(1):R33.CrossRefPubMedPubMedCentral Caorsi R, Lepore L, Zulian F, Alessio M, Stabile A, Insalaco A, et al. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. Arthritis Res Ther. 2013;15(1):R33.CrossRefPubMedPubMedCentral
80.
go back to reference Urien S, Bardin C, Bader-Meunier B, Mouy R, Compeyrot-Lacassagne S, Foissac F, et al. Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes. BMC Pharmacol Ttoxicol. 2013;14:40.CrossRef Urien S, Bardin C, Bader-Meunier B, Mouy R, Compeyrot-Lacassagne S, Foissac F, et al. Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes. BMC Pharmacol Ttoxicol. 2013;14:40.CrossRef
81.
go back to reference Wang C, Hockerman S, Jacobsen EJ, Alippe Y, Selness SR, Hope HR, et al. Selective inhibition of the p38alpha MAPK-MK2 axis inhibits inflammatory cues including inflammasome priming signals. J Exp Med. 2018;215(5):1315–25.CrossRefPubMedPubMedCentral Wang C, Hockerman S, Jacobsen EJ, Alippe Y, Selness SR, Hope HR, et al. Selective inhibition of the p38alpha MAPK-MK2 axis inhibits inflammatory cues including inflammasome priming signals. J Exp Med. 2018;215(5):1315–25.CrossRefPubMedPubMedCentral
82.
go back to reference Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC, et al. IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. J Immunol. 2005;175(4):2630–4.CrossRefPubMed Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC, et al. IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. J Immunol. 2005;175(4):2630–4.CrossRefPubMed
83.
go back to reference Coll RC, Robertson AA, Chae JJ, Higgins SC, Munoz-Planillo R, Inserra MC, et al. A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases. Nat Med. 2015;21(3):248–55.CrossRefPubMedPubMedCentral Coll RC, Robertson AA, Chae JJ, Higgins SC, Munoz-Planillo R, Inserra MC, et al. A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases. Nat Med. 2015;21(3):248–55.CrossRefPubMedPubMedCentral
84.
go back to reference ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74(9):1636–44.CrossRefPubMed ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74(9):1636–44.CrossRefPubMed
Metadata
Title
CAPS and NLRP3
Authors
Laela M. Booshehri
Hal M. Hoffman
Publication date
01-04-2019
Publisher
Springer US
Keyword
Cytokines
Published in
Journal of Clinical Immunology / Issue 3/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00638-z

Other articles of this Issue 3/2019

Journal of Clinical Immunology 3/2019 Go to the issue