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Volumn 105, Issue 3, 2005, Pages 1195-1197

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: Common genetic etiology with Blau syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

EID: 19944431022     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-07-2972     Document Type: Article
Times cited : (426)

References (25)
  • 1
    • 0032444367 scopus 로고    scopus 로고
    • Sarcoidosis: A pediatric perspective
    • Phila
    • Shetty AK, Gedalia A. Sarcoidosis: a pediatric perspective. Clin Pediatr (Phila). 1998;37:707-717.
    • (1998) Clin Pediatr , vol.37 , pp. 707-717
    • Shetty, A.K.1    Gedalia, A.2
  • 2
    • 0031020748 scopus 로고    scopus 로고
    • Early onset sarcoidosis: Not a benign disease
    • Fink CW, Cimaz R. Early onset sarcoidosis: not a benign disease. J Rheumatol. 1997;24:174-177.
    • (1997) J Rheumatol , vol.24 , pp. 174-177
    • Fink, C.W.1    Cimaz, R.2
  • 3
    • 0022213722 scopus 로고
    • Familial granulomatous arthritis, iritis, and rash
    • Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr. 1985;107:689-693.
    • (1985) J Pediatr , vol.107 , pp. 689-693
    • Blau, E.B.1
  • 4
    • 19244364857 scopus 로고    scopus 로고
    • Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16
    • Tramp G, Kuivaniemi H, Raphael S, et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet. 1996;59:1097-1107.
    • (1996) Am J Hum Genet , vol.59 , pp. 1097-1107
    • Tramp, G.1    Kuivaniemi, H.2    Raphael, S.3
  • 6
    • 0035895992 scopus 로고    scopus 로고
    • Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κB
    • Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κB. J Biol Chem. 2001;276:4812-4818.
    • (2001) J Biol Chem , vol.276 , pp. 4812-4818
    • Ogura, Y.1    Inohara, N.2    Benito, A.3    Chen, F.F.4    Yamaoka, S.5    Nunez, G.6
  • 7
    • 0038624558 scopus 로고    scopus 로고
    • NODs: Intracellular proteins involved in inflammation and apoptosis
    • Inohara N, Nunez Q. NODs: intracellular proteins involved in inflammation and apoptosis. Nat Rev Immunol. 2003;3:371-382.
    • (2003) Nat Rev Immunol , vol.3 , pp. 371-382
    • Inohara, N.1    Nunez, Q.2
  • 8
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    • Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411:599-603.
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1    Chamaillard, M.2    Zouali, H.3
  • 9
    • 0035978533 scopus 로고    scopus 로고
    • A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    • Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001;411:603-606.
    • (2001) Nature , vol.411 , pp. 603-606
    • Ogura, Y.1    Bonen, D.K.2    Inohara, N.3
  • 10
    • 0041885442 scopus 로고    scopus 로고
    • CARD15: A pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis
    • Rahman P, Bartlett S, Siannis F, et al. CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet. 2003;73:677-681.
    • (2003) Am J Hum Genet , vol.73 , pp. 677-681
    • Rahman, P.1    Bartlett, S.2    Siannis, F.3
  • 11
    • 0036846291 scopus 로고    scopus 로고
    • CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy
    • Wang X, Kuivaniemi H, Bonavita G, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum. 2002;46:3041-3045.
    • (2002) Arthritis Rheum , vol.46 , pp. 3041-3045
    • Wang, X.1    Kuivaniemi, H.2    Bonavita, G.3
  • 12
    • 0141747229 scopus 로고    scopus 로고
    • Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation
    • Kurokawa T, Kikuchi T, Ohta K, et al. Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. Ophthalmology. 2003;110:2040-2044.
    • (2003) Ophthalmology , vol.110 , pp. 2040-2044
    • Kurokawa, T.1    Kikuchi, T.2    Ohta, K.3
  • 13
    • 0022542441 scopus 로고
    • Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": The same disease
    • Miller JJ. Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": the same disease. J Pediatr. 1986;109:387-388.
    • (1986) J Pediatr , vol.109 , pp. 387-388
    • Miller, J.J.1
  • 14
    • 85046519918 scopus 로고    scopus 로고
    • Blau's syndrome and sarcoidosis
    • James G. Blau's syndrome and sarcoidosis. Lancet. 1999;354:1035.
    • (1999) Lancet , vol.354 , pp. 1035
    • James, G.1
  • 16
    • 0031048907 scopus 로고    scopus 로고
    • Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: The significance of gallium scintigraphy and skin biopsy in the different diagnosis
    • Sakurai Y, Nakajima M, Kamisue S, et al. Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the different diagnosis. Acta Paediatrica Japonica. 1997;39:74-78.
    • (1997) Acta Paediatrica Japonica , vol.39 , pp. 74-78
    • Sakurai, Y.1    Nakajima, M.2    Kamisue, S.3
  • 18
    • 12844267832 scopus 로고
    • Sarcoidosis in a 6-month-old infant - Report of a case and review of the literature
    • Akiyama H, Seno A, Tada J, Arata J, Oda M. Sarcoidosis in a 6-month-old infant - report of a case and review of the literature. Jap J Dermatol. 1993;103:19-25.
    • (1993) Jap J Dermatol , vol.103 , pp. 19-25
    • Akiyama, H.1    Seno, A.2    Tada, J.3    Arata, J.4    Oda, M.5
  • 19
    • 0028035092 scopus 로고
    • Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: A case report and a review of the literature of Japanese cases
    • Ukae S, Tsutsumi H, Adachi N, Takahashi H, Kato F, Chiba S. Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. Acta Paediatrica Japonica. 1994;36:515-518.
    • (1994) Acta Paediatrica Japonica , vol.36 , pp. 515-518
    • Ukae, S.1    Tsutsumi, H.2    Adachi, N.3    Takahashi, H.4    Kato, F.5    Chiba, S.6
  • 20
    • 12844283030 scopus 로고
    • A child case of sarcoidosis presenting hepatosplenomegaly
    • Ito S, Kato R, Asano Y, et al. A child case of sarcoidosis presenting hepatosplenomegaly. Pediatr Jap. 1977;18:613-619.
    • (1977) Pediatr Jap , vol.18 , pp. 613-619
    • Ito, S.1    Kato, R.2    Asano, Y.3
  • 21
    • 0036201577 scopus 로고    scopus 로고
    • CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease
    • Lesage S, Zouali H, Cezard JP, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 2002;70:845-857.
    • (2002) Am J Hum Genet , vol.70 , pp. 845-857
    • Lesage, S.1    Zouali, H.2    Cezard, J.P.3
  • 22
    • 0037458665 scopus 로고    scopus 로고
    • Host recognition of bacterial muramyl dipeptide mediated through NOD2: Implications for Crohn's disease
    • Inohara N, Ogura Y, Fontalba A, et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2: implications for Crohn's disease. J Biol Chem. 2003;278:5509-5512.
    • (2003) J Biol Chem , vol.278 , pp. 5509-5512
    • Inohara, N.1    Ogura, Y.2    Fontalba, A.3
  • 23
    • 0012722659 scopus 로고    scopus 로고
    • Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection
    • Girardin SE, Boneca IG, Viala J, et al. Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem. 2003;278:8869-8872.
    • (2003) J Biol Chem , vol.278 , pp. 8869-8872
    • Girardin, S.E.1    Boneca, I.G.2    Viala, J.3
  • 24
    • 0037452968 scopus 로고    scopus 로고
    • Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases
    • Chamaillard M, Philpott D, Girardin SE, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A. 2003;100:3455-3460.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 3455-3460
    • Chamaillard, M.1    Philpott, D.2    Girardin, S.E.3
  • 25
    • 2342583513 scopus 로고    scopus 로고
    • Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition
    • Tanabe T, Chamaillard M, Ogura Y, et al. Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. EMBO J. 2004;23:1587-1597.
    • (2004) EMBO J , vol.23 , pp. 1587-1597
    • Tanabe, T.1    Chamaillard, M.2    Ogura, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.