메뉴 건너뛰기




Volumn 69, Issue 2, 2017, Pages 447-459

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell–Based Phenotype Dissection

Author keywords

[No Author keywords available]

Indexed keywords

CRYOPYRIN; INTERLEUKIN 10; INTERLEUKIN 12P70; INTERLEUKIN 18; INTERLEUKIN 1BETA; INTERLEUKIN 33; INTERLEUKIN 6; INTERLEUKIN 8; NLRC4 PROTEIN; PROTEIN; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG; CALCIUM BINDING PROTEIN; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; NLRC4 PROTEIN, HUMAN;

EID: 85010877091     PISSN: 23265191     EISSN: 23265205     Source Type: Journal    
DOI: 10.1002/art.39960     Document Type: Article
Times cited : (99)

References (40)
  • 1
    • 34247252063 scopus 로고    scopus 로고
    • The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    • 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;56:1273–85.
    • (2007) Arthritis Rheum , vol.56 , pp. 1273-1285
    • Aksentijevich, I.1    Putnam, C.D.2    Remmers, E.F.3    Mueller, J.L.4    Le, J.5    Kolodner, R.D.6
  • 3
    • 0036899758 scopus 로고    scopus 로고
    • 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
    • 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;46:3340–8.
    • (2002) Arthritis Rheum , vol.46 , pp. 3340-3348
    • Aksentijevich, I.1    Nowak, M.2    Mallah, M.3    Chae, J.J.4    Watford, W.T.5    Hofmann, S.R.6
  • 4
    • 0036302235 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
    • 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;71:198–203.
    • (2002) Am J Hum Genet , vol.71 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3    Berquin, P.4    Certain, S.5    Cortis, E.6
  • 5
    • 80155148684 scopus 로고    scopus 로고
    • High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an international multicenter collaborative study
    • Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an international multicenter collaborative study. Arthritis Rheum 2011;63:3625–32.
    • (2011) Arthritis Rheum , vol.63 , pp. 3625-3632
    • Tanaka, N.1    Izawa, K.2    Saito, M.K.3    Sakuma, M.4    Oshima, K.5    Ohara, O.6
  • 6
    • 41349094800 scopus 로고    scopus 로고
    • Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients
    • 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;111:2132–41.
    • (2008) Blood , vol.111 , pp. 2132-2141
    • Saito, M.1    Nishikomori, R.2    Kambe, N.3    Fujisawa, A.4    Tanizaki, H.5    Takeichi, K.6
  • 8
    • 84911922142 scopus 로고    scopus 로고
    • An inherited mutation in NLRC4 causes autoinflammation in human and mice
    • Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med 2014;211:2385–96.
    • (2014) J Exp Med , vol.211 , pp. 2385-2396
    • Kitamura, A.1    Sasaki, Y.2    Abe, T.3    Kano, H.4    Yasutomo, K.5
  • 9
    • 84927126118 scopus 로고    scopus 로고
    • An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
    • Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet 2014;46:1140–6.
    • (2014) Nat Genet , vol.46 , pp. 1140-1146
    • Canna, S.W.1    de Jesus, A.A.2    Gouni, S.3    Brooks, S.R.4    Marrero, B.5    Liu, Y.6
  • 11
    • 84884416457 scopus 로고    scopus 로고
    • Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    • Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;14:681–91.
    • (2013) Nat Rev Genet , vol.14 , pp. 681-691
    • Boycott, K.M.1    Vanstone, M.R.2    Bulman, D.E.3    MacKenzie, A.E.4
  • 13
    • 84904565419 scopus 로고    scopus 로고
    • Recent advances in the study of somatic mosaicism and diseases other than cancer
    • Erickson RP. Recent advances in the study of somatic mosaicism and diseases other than cancer. Curr Opin Genet Dev 2014;26:73–8.
    • (2014) Curr Opin Genet Dev , vol.26 , pp. 73-78
    • Erickson, R.P.1
  • 14
    • 77956161900 scopus 로고    scopus 로고
    • Somatic gene mutation and human disease other than cancer: an update
    • Erickson RP. Somatic gene mutation and human disease other than cancer: an update. Mutat Res 2010;705:96–106.
    • (2010) Mutat Res , vol.705 , pp. 96-106
    • Erickson, R.P.1
  • 15
    • 0036789093 scopus 로고    scopus 로고
    • Mechanisms and consequences of somatic mosaicism in humans
    • Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002;3:748–58.
    • (2002) Nat Rev Genet , vol.3 , pp. 748-758
    • Youssoufian, H.1    Pyeritz, R.E.2
  • 17
    • 84864400015 scopus 로고    scopus 로고
    • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
    • Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44:934–40.
    • (2012) Nat Genet , vol.44 , pp. 934-940
    • Riviere, J.B.1    Mirzaa, G.M.2    O'Roak, B.J.3    Beddaoui, M.4    Alcantara, D.5    Conway, R.L.6
  • 18
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007;131:861–72.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3    Narita, M.4    Ichisaka, T.5    Tomoda, K.6
  • 21
    • 41949098160 scopus 로고    scopus 로고
    • Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency
    • Hanna J, Markoulaki S, Schorderet P, Carey BW, Beard C, Wernig M, et al. Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency. Cell 2008;133:250–64.
    • (2008) Cell , vol.133 , pp. 250-264
    • Hanna, J.1    Markoulaki, S.2    Schorderet, P.3    Carey, B.W.4    Beard, C.5    Wernig, M.6
  • 23
    • 84871410004 scopus 로고    scopus 로고
    • Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
    • Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, et al. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 2012;492:438–42.
    • (2012) Nature , vol.492 , pp. 438-442
    • Abyzov, A.1    Mariani, J.2    Palejev, D.3    Zhang, Y.4    Haney, M.S.5    Tomasini, L.6
  • 24
    • 42949143215 scopus 로고    scopus 로고
    • Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome
    • Kashiwagi Y, Kawashima H, Nishimata S, Nagao R, Watanabe K, Takekuma K, et al. Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. Clin Rheumatol 2008;27:277–9.
    • (2008) Clin Rheumatol , vol.27 , pp. 277-279
    • Kashiwagi, Y.1    Kawashima, H.2    Nishimata, S.3    Nagao, R.4    Watanabe, K.5    Takekuma, K.6
  • 25
    • 34248205020 scopus 로고    scopus 로고
    • A case report of neonatal onset multisystemic inflammatory disease in Japan treated with continuous hemodiafiltration and steroid pulse therapy
    • Kawashima H, Sato A, Nishimata S, Yamada N, Kashiwagi Y, Watanabe K, et al. A case report of neonatal onset multisystemic inflammatory disease in Japan treated with continuous hemodiafiltration and steroid pulse therapy. Ther Apher Dial 2007;11:232–4.
    • (2007) Ther Apher Dial , vol.11 , pp. 232-234
    • Kawashima, H.1    Sato, A.2    Nishimata, S.3    Yamada, N.4    Kashiwagi, Y.5    Watanabe, K.6
  • 26
    • 84859707571 scopus 로고    scopus 로고
    • Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing
    • Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res 2012;19:143–52.
    • (2012) DNA Res , vol.19 , pp. 143-152
    • Izawa, K.1    Hijikata, A.2    Tanaka, N.3    Kawai, T.4    Saito, M.K.5    Goldbach-Mansky, R.6
  • 27
    • 84865177017 scopus 로고    scopus 로고
    • Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery
    • Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, et al. Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. Blood 2012;120:1299–308.
    • (2012) Blood , vol.120 , pp. 1299-1308
    • Tanaka, T.1    Takahashi, K.2    Yamane, M.3    Tomida, S.4    Nakamura, S.5    Oshima, K.6
  • 28
    • 79960822732 scopus 로고    scopus 로고
    • A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors
    • Niwa A, Heike T, Umeda K, Oshima K, Kato I, Sakai H, et al. A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors. PLoS One 2011;6:e22261.
    • (2011) PLoS One , vol.6
    • Niwa, A.1    Heike, T.2    Umeda, K.3    Oshima, K.4    Kato, I.5    Sakai, H.6
  • 29
    • 84875714069 scopus 로고    scopus 로고
    • Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell-free conditions
    • Yanagimachi MD, Niwa A, Tanaka T, Honda-Ozaki F, Nishimoto S, Murata Y, et al. Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell-free conditions. PLoS One 2013;8:e59243.
    • (2013) PLoS One , vol.8
    • Yanagimachi, M.D.1    Niwa, A.2    Tanaka, T.3    Honda-Ozaki, F.4    Nishimoto, S.5    Murata, Y.6
  • 30
    • 79955705563 scopus 로고    scopus 로고
    • Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility
    • Hijikata A, Yura K, Noguti T, Go M. Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility. Proteins 2011;79:1868–77.
    • (2011) Proteins , vol.79 , pp. 1868-1877
    • Hijikata, A.1    Yura, K.2    Noguti, T.3    Go, M.4
  • 32
    • 84880280093 scopus 로고    scopus 로고
    • Crystal structure of NLRC4 reveals its autoinhibition mechanism
    • Hu Z, Yan C, Liu P, Huang Z, Ma R, Zhang C, et al. Crystal structure of NLRC4 reveals its autoinhibition mechanism. Science 2013;341:172–5.
    • (2013) Science , vol.341 , pp. 172-175
    • Hu, Z.1    Yan, C.2    Liu, P.3    Huang, Z.4    Ma, R.5    Zhang, C.6
  • 33
    • 84877749893 scopus 로고    scopus 로고
    • TAP-deficient human iPS cell-derived myeloid cell lines as unlimited cell source for dendritic cell-like antigen-presenting cells
    • Haruta M, Tomita Y, Yuno A, Matsumura K, Ikeda T, Takamatsu K, et al. TAP-deficient human iPS cell-derived myeloid cell lines as unlimited cell source for dendritic cell-like antigen-presenting cells. Gene Ther 2013;20:504–13.
    • (2013) Gene Ther , vol.20 , pp. 504-513
    • Haruta, M.1    Tomita, Y.2    Yuno, A.3    Matsumura, K.4    Ikeda, T.5    Takamatsu, K.6
  • 34
    • 3142654767 scopus 로고    scopus 로고
    • Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf
    • Mariathasan S, Newton K, Monack DM, Vucic D, French DM, Lee WP, et al. Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf. Nature 2004;430:213–8.
    • (2004) Nature , vol.430 , pp. 213-218
    • Mariathasan, S.1    Newton, K.2    Monack, D.M.3    Vucic, D.4    French, D.M.5    Lee, W.P.6
  • 35
    • 47849097202 scopus 로고    scopus 로고
    • Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization
    • Hornung V, Bauernfeind F, Halle A, Samstad EO, Kono H, Rock KL, et al. Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization. Nat Immunol 2008;9:847–56.
    • (2008) Nat Immunol , vol.9 , pp. 847-856
    • Hornung, V.1    Bauernfeind, F.2    Halle, A.3    Samstad, E.O.4    Kono, H.5    Rock, K.L.6
  • 37
    • 15644369352 scopus 로고    scopus 로고
    • Activation of interferon-γ inducing factor mediated by interleukin-1β converting enzyme
    • Gu Y, Kuida K, Tsutsui H, Ku G, Hsiao K, Fleming MA, et al. Activation of interferon-γ inducing factor mediated by interleukin-1β converting enzyme. Science 1997;275:206–9.
    • (1997) Science , vol.275 , pp. 206-209
    • Gu, Y.1    Kuida, K.2    Tsutsui, H.3    Ku, G.4    Hsiao, K.5    Fleming, M.A.6
  • 38
    • 77953105116 scopus 로고    scopus 로고
    • Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1β secretion
    • 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-1β secretion. Proc Natl Acad Sci U S A 2010;107:9789–94.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 9789-9794
    • Tassi, S.1    Carta, S.2    Delfino, L.3    Caorsi, R.4    Martini, A.5    Gattorno, M.6
  • 39
    • 84937521691 scopus 로고    scopus 로고
    • Somatic mosaicism: implications for disease and transmission genetics
    • Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 2015;31:382–92.
    • (2015) Trends Genet , vol.31 , pp. 382-392
    • Campbell, I.M.1    Shaw, C.A.2    Stankiewicz, P.3    Lupski, J.R.4
  • 40
    • 84944517306 scopus 로고    scopus 로고
    • Unrevealed mosaicism in the next-generation sequencing era
    • Gajecka M. Unrevealed mosaicism in the next-generation sequencing era. Mol Genet Genomics 2016;291:513–30.
    • (2016) Mol Genet Genomics , vol.291 , pp. 513-530
    • Gajecka, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.