메뉴 건너뛰기




Volumn 31, Issue 5, 2012, Pages 829-834

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: The Chilean experience

Author keywords

Autoinflammatory syndromes; Familial Mediterranean fever; Hispanics; Periodic fevers; Tumor necrosis factor receptor associated periodic syndrome

Indexed keywords

ARTICLE; CHILD; CHILE; CLINICAL ARTICLE; CLINICAL FEATURE; ETHNICITY; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; HEREDITARY PERIODIC FEVER; HISPANIC; HUMAN; INFLAMMATION; MALE; MEFV GENE; MISSENSE MUTATION; MULTICENTER STUDY; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; TNFRSF1A GENE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

EID: 84863720818     PISSN: 07703198     EISSN: 14349949     Source Type: Journal    
DOI: 10.1007/s10067-012-1942-3     Document Type: Article
Times cited : (12)

References (33)
  • 2
    • 77950363011 scopus 로고    scopus 로고
    • Autoinflammatory disease reloaded: A clinical perspective
    • Kastner DL, Aksentijevich I, Goldbach-Mansky R (2010) Autoinflammatory disease reloaded: a clinical perspective. Cell 140:784-790
    • (2010) Cell , vol.140 , pp. 784-790
    • Kastner, D.L.1    Aksentijevich, I.2    Goldbach-Mansky, R.3
  • 3
    • 71149101614 scopus 로고    scopus 로고
    • Therapy of autoinflammatory syndromes
    • quiz 1139-1140
    • Hoffman HM (2009) Therapy of autoinflammatory syndromes. J Allergy Clin Immunol 124:1129-1138, quiz 1139-1140
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1129-1138
    • Hoffman, H.M.1
  • 4
    • 67650736238 scopus 로고    scopus 로고
    • Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease (*)
    • Masters SL, Simon A, Aksentijevich I, Kastner DL (2009) Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol 27:621-668
    • (2009) Annu Rev Immunol , vol.27 , pp. 621-668
    • Masters, S.L.1    Simon, A.2    Aksentijevich, I.3    Kastner, D.L.4
  • 5
    • 70349774428 scopus 로고    scopus 로고
    • Familial mediterranean Fever in the world
    • Ben-Chetrit E, Touitou I (2009) Familial mediterranean Fever in the world. Arthritis Rheum 61:1447-1453
    • (2009) Arthritis Rheum , vol.61 , pp. 1447-1453
    • Ben-Chetrit, E.1    Touitou, I.2
  • 6
    • 1342302269 scopus 로고    scopus 로고
    • Renal amyloidosis in familial Mediterranean fever
    • Ozen S (2004) Renal amyloidosis in familial Mediterranean fever. Kidney Int 65:1118-1127
    • (2004) Kidney Int , vol.65 , pp. 1118-1127
    • Ozen, S.1
  • 7
    • 79956299492 scopus 로고    scopus 로고
    • Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice
    • Chae JJ, Cho YH, Lee GS, Cheng J, Liu PP, Feigenbaum L, Katz SI, Kastner DL (2011) Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice. Immunity 34:755-768
    • (2011) Immunity , vol.34 , pp. 755-768
    • Chae, J.J.1    Cho, Y.H.2    Lee, G.S.3    Cheng, J.4    Liu, P.P.5    Feigenbaum, L.6    Katz, S.I.7    Kastner, D.L.8
  • 11
    • 32844473310 scopus 로고    scopus 로고
    • The tumour necrosis factor receptor-associated periodic syndrome: Current concepts
    • Stojanov S, McDermott MF (2005) The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med 7:1-18
    • (2005) Expert Rev Mol Med , vol.7 , pp. 1-18
    • Stojanov, S.1    McDermott, M.F.2
  • 16
    • 33749166795 scopus 로고    scopus 로고
    • Sustained, progressive, nonresolving abdominal pain: A previously undescribed clinical presentation of familial Mediterranean fever
    • Radisic M, Santamarina J, Froment R (2006) Sustained, progressive, nonresolving abdominal pain: a previously undescribed clinical presentation of familial Mediterranean fever. Clin Rheumatol 25:914-916
    • (2006) Clin Rheumatol , vol.25 , pp. 914-916
    • Radisic, M.1    Santamarina, J.2    Froment, R.3
  • 19
    • 0031814513 scopus 로고    scopus 로고
    • Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
    • Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL (1998) Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 77:268-297
    • (1998) Medicine (Baltimore) , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3    Centola, M.4    Deng, Z.5    Sood, R.6    Kastner, D.L.7
  • 20
    • 0016201740 scopus 로고
    • Familial Mediterranean Fever in Armenians. Analysis of 100 cases
    • Schwabe AD, Peters RS (1974) Familial Mediterranean Fever in Armenians. Analysis of 100 cases. Medicine (Baltimore) 53:453-462
    • (1974) Medicine (Baltimore) , vol.53 , pp. 453-462
    • Schwabe, A.D.1    Peters, R.S.2
  • 22
    • 77954159970 scopus 로고    scopus 로고
    • Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations
    • Moradian MM, Sarkisian T, Ajrapetyan H, Avanesian N (2010) Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. J Hum Genet 55:389-393
    • (2010) J Hum Genet , vol.55 , pp. 389-393
    • Moradian, M.M.1    Sarkisian, T.2    Ajrapetyan, H.3    Avanesian, N.4
  • 24
    • 0032574208 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Ben-Chetrit E, Levy M (1998) Familial Mediterranean fever. Lancet 351:659-664
    • (1998) Lancet , vol.351 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 28
    • 34548557267 scopus 로고    scopus 로고
    • Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes
    • Arostegui JI, Yague J (2007) Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes. Med Clin (Barc) 129:267-277
    • (2007) Med Clin (Barc) , vol.129 , pp. 267-277
    • Arostegui, J.I.1    Yague, J.2
  • 31
    • 0037295409 scopus 로고    scopus 로고
    • Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): Clinical and laboratory findings in a series of seven patients
    • Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ (2003) Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford) 42:235-239
    • (2003) Rheumatology (Oxford) , vol.42 , pp. 235-239
    • Drewe, E.1    McDermott, E.M.2    Powell, P.T.3    Isaacs, J.D.4    Powell, R.J.5
  • 32
    • 33244456182 scopus 로고    scopus 로고
    • Expansion of CD28-CD27-NKG2D+ effector memory T cells and predominant Th1-type response during febrile attacks in tumor necrosis factor-associated periodic syndrome
    • Holle JU, Capraru D, Csernok E, Gross WL, Lamprecht P (2006) Expansion of CD28-CD27-NKG2D+ effector memory T cells and predominant Th1-type response during febrile attacks in tumor necrosis factor-associated periodic syndrome. Isr Med Assoc J 8:142-144
    • (2006) Isr Med Assoc J , vol.8 , pp. 142-144
    • Holle, J.U.1    Capraru, D.2    Csernok, E.3    Gross, W.L.4    Lamprecht, P.5
  • 33
    • 33749591893 scopus 로고    scopus 로고
    • Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis
    • Ida H, Aramaki T, Arima K, Origuchi T, Kawakami A, Eguchi K (2006) Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis. Rheumatology (Oxford) 45:1171-1173
    • (2006) Rheumatology (Oxford) , vol.45 , pp. 1171-1173
    • Ida, H.1    Aramaki, T.2    Arima, K.3    Origuchi, T.4    Kawakami, A.5    Eguchi, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.