메뉴 건너뛰기




Volumn 54, Issue 2, 2015, Pages 121-129

Proteasome-associated autoinflammatory syndromes: Advances in pathogeneses, clinical presentations, diagnosis, and management

Author keywords

[No Author keywords available]

Indexed keywords

BARICITINIB; BORTEZOMIB; C REACTIVE PROTEIN; CD163 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD45RO ANTIGEN; CD8 ANTIGEN; CHLORDANE; DAPSONE; GLUCOCORTICOID; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; IMMUNOSUPPRESSIVE AGENT; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 12; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 4; INTERLEUKIN 5; INTERLEUKIN 6; INTERLEUKIN 8; KALLIKREIN; MONOCYTE CHEMOTACTIC PROTEIN 1; MYELOPEROXIDASE; PROTEASOME; RANTES; TOFACITINIB; LMP7 PROTEIN;

EID: 84921548263     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/ijd.12695     Document Type: Review
Times cited : (74)

References (16)
  • 1
    • 84863232739 scopus 로고    scopus 로고
    • Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
    • Liu Y, Ramot Y, Torrelo A, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2012; 64: 895-907.
    • (2012) Arthritis Rheum , vol.64 , pp. 895-907
    • Liu, Y.1    Ramot, Y.2    Torrelo, A.3
  • 2
    • 80052565561 scopus 로고    scopus 로고
    • Proteasome assembly defect due to a proteasome subunit β type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
    • Arima K, Kinoshita A, Mishima H, et al. Proteasome assembly defect due to a proteasome subunit β type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A 2011; 108: 14914-14919.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 14914-14919
    • Arima, K.1    Kinoshita, A.2    Mishima, H.3
  • 3
    • 78649775528 scopus 로고    scopus 로고
    • PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
    • Agarwal AK, Xing C, DeMartino GN, et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 2010; 87: 866-872.
    • (2010) Am J Hum Genet , vol.87 , pp. 866-872
    • Agarwal, A.K.1    Xing, C.2    DeMartino, G.N.3
  • 4
    • 80053397654 scopus 로고    scopus 로고
    • A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
    • Kitamura A, Maekawa Y, Uehara H, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest 2011; 121: 4150-4160.
    • (2011) J Clin Invest , vol.121 , pp. 4150-4160
    • Kitamura, A.1    Maekawa, Y.2    Uehara, H.3
  • 5
    • 84862677492 scopus 로고    scopus 로고
    • Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy
    • Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol Int 2012; 61: 197-206.
    • (2012) Allergol Int , vol.61 , pp. 197-206
    • Kanazawa, N.1
  • 6
    • 77955596988 scopus 로고    scopus 로고
    • Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress
    • Seifert U, Bialy LP, Ebstein F, et al. Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress. Cell 2010; 142: 613-624.
    • (2010) Cell , vol.142 , pp. 613-624
    • Seifert, U.1    Bialy, L.P.2    Ebstein, F.3
  • 7
    • 84857313367 scopus 로고    scopus 로고
    • Immuno- and constitutive proteasome crystal structures reveal differences in substrate and inhibitor specificity
    • Huber EM, Basler M, Schwab R, et al. Immuno- and constitutive proteasome crystal structures reveal differences in substrate and inhibitor specificity. Cell 2012; 148: 727-738.
    • (2012) Cell , vol.148 , pp. 727-738
    • Huber, E.M.1    Basler, M.2    Schwab, R.3
  • 8
    • 84879074171 scopus 로고    scopus 로고
    • A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations
    • McDermott A, Jesus AA, Liu Y, et al. A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations. J Am Acad Dermatol 2013; 69: e29-e32.
    • (2013) J Am Acad Dermatol , vol.69 , pp. e29-e32
    • McDermott, A.1    Jesus, A.A.2    Liu, Y.3
  • 9
    • 0027991677 scopus 로고
    • MHC class I expression in mice lacking the proteasome subunit LMP-7
    • Fehling HJ, Swat W, Laplace C, et al. MHC class I expression in mice lacking the proteasome subunit LMP-7. Science 1994; 265: 1234-1237.
    • (1994) Science , vol.265 , pp. 1234-1237
    • Fehling, H.J.1    Swat, W.2    Laplace, C.3
  • 10
    • 84943211442 scopus 로고
    • A syndrome with nodular erythema, elongated and thickened fingers, and emaciation
    • Kitano Y, Matsunaga E, Morimoto T, et al. A syndrome with nodular erythema, elongated and thickened fingers, and emaciation. Arch Dermatol 1985; 121: 1053-1056.
    • (1985) Arch Dermatol , vol.121 , pp. 1053-1056
    • Kitano, Y.1    Matsunaga, E.2    Morimoto, T.3
  • 11
    • 0027354738 scopus 로고
    • Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-γ-globulinemia: a new syndrome
    • Tanaka M, Miyatani N, Yamada S, et al. Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-γ-globulinemia: a new syndrome. Intern Med 1993; 32: 42-45.
    • (1993) Intern Med , vol.32 , pp. 42-45
    • Tanaka, M.1    Miyatani, N.2    Yamada, S.3
  • 12
    • 41849126317 scopus 로고    scopus 로고
    • A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities
    • Kasagi S, Kawano S, Nakazawa T, et al. A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities. Mod Rheumatol 2008; 18: 203-207.
    • (2008) Mod Rheumatol , vol.18 , pp. 203-207
    • Kasagi, S.1    Kawano, S.2    Nakazawa, T.3
  • 13
    • 76249121423 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
    • Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 2010; 62: 489-495.
    • (2010) J Am Acad Dermatol , vol.62 , pp. 489-495
    • Torrelo, A.1    Patel, S.2    Colmenero, I.3
  • 14
    • 77956579857 scopus 로고    scopus 로고
    • An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy
    • Garg A, Hernandez MD, Sousa AB, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab 2010; 95: E58-E63.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. E58-E63
    • Garg, A.1    Hernandez, M.D.2    Sousa, A.B.3
  • 16
    • 67650388103 scopus 로고    scopus 로고
    • A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis
    • Muchamuel T, Basler M, Aujay MA, et al. A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis. Nat Med 2009; 15: 781-787.
    • (2009) Nat Med , vol.15 , pp. 781-787
    • Muchamuel, T.1    Basler, M.2    Aujay, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.