메뉴 건너뛰기




Volumn 34, Issue 6, 2014, Pages 601-606

Clinical Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation

Author keywords

clinical heterogeneity; FOXP3; IPEX; lung involvement

Indexed keywords

AUTOANTIBODY; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN;

EID: 84939879619     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0059-7     Document Type: Article
Times cited : (34)

References (19)
  • 1
    • 0035167967 scopus 로고    scopus 로고
    • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    • COI: 1:CAS:528:DC%2BD3MXis1yluw%3D%3D, PID: 11137993
    • Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001;27:20–1.
    • (2001) Nat Genet , vol.27 , pp. 20-21
    • Bennett, C.L.1    Christie, J.2    Ramsdell, F.3    Brunkow, M.E.4    Ferguson, P.J.5    Whitesell, L.6
  • 2
    • 0034526617 scopus 로고    scopus 로고
    • JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
    • COI: 1:CAS:528:DC%2BD3cXovFagur0%3D, PID: 11120765
    • Chatila TA, Blaeser F, Ho N, Lederman HM, Voulgaropoulos C, Helms C, et al. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest. 2000;106:R75–81.
    • (2000) J Clin Invest , vol.106 , pp. R75-R81
    • Chatila, T.A.1    Blaeser, F.2    Ho, N.3    Lederman, H.M.4    Voulgaropoulos, C.5    Helms, C.6
  • 3
    • 57249097253 scopus 로고    scopus 로고
    • Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity
    • COI: 1:CAS:528:DC%2BD1cXhsV2ltr7E, PID: 18951619
    • Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol. 2008;122:1105–12.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1105-1112
    • Gambineri, E.1    Perroni, L.2    Passerini, L.3    Bianchi, L.4    Doglioni, C.5    Meschi, F.6
  • 4
    • 84867742980 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity
    • PID: 23060872
    • Barzaghi F, Passerini L, Bacchetta R. Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol. 2012;3:211. doi:10.3389/fimmu.2012.00211.
    • (2012) Front Immunol , vol.3 , pp. 211
    • Barzaghi, F.1    Passerini, L.2    Bacchetta, R.3
  • 5
    • 79961119889 scopus 로고    scopus 로고
    • Clinical and molecular characteristics of immunodys regulation, polyendocrinopathy, enteropathy, X-linked syndrome in China
    • COI: 1:CAS:528:DC%2BC3MXht1Shtr3M, PID: 21595732
    • An YF, Xu F, Wang M, Zhang ZY, Zhao XD. Clinical and molecular characteristics of immunodys regulation, polyendocrinopathy, enteropathy, X-linked syndrome in China. Scand J Immunol. 2011;74:304–9.
    • (2011) Scand J Immunol , vol.74 , pp. 304-309
    • An, Y.F.1    Xu, F.2    Wang, M.3    Zhang, Z.Y.4    Zhao, X.D.5
  • 6
    • 84864080545 scopus 로고    scopus 로고
    • The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
    • PID: 22581967
    • d’Hennezel E, Bin Dhuban K, Torgerson T, Piccirillo CA. The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet. 2012;49:291–302.
    • (2012) J Med Genet , vol.49 , pp. 291-302
    • d’Hennezel, E.1    Bin Dhuban, K.2    Torgerson, T.3    Piccirillo, C.A.4
  • 7
    • 67650283786 scopus 로고    scopus 로고
    • Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    • PID: 19189134
    • Hashimura Y, Nozu K, Kanegane H, et al. Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol. 2009;24:1181–6.
    • (2009) Pediatr Nephrol , vol.24 , pp. 1181-1186
    • Hashimura, Y.1    Nozu, K.2    Kanegane, H.3
  • 8
    • 0036346861 scopus 로고    scopus 로고
    • Clinical and molecular features of the immunodys regulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
    • COI: 1:CAS:528:DC%2BD38XntFSktbs%3D, PID: 12161590
    • Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodys regulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet. 2002;39:537–45.
    • (2002) J Med Genet , vol.39 , pp. 537-545
    • Wildin, R.S.1    Smyk-Pearson, S.2    Filipovich, A.H.3
  • 9
    • 78049461165 scopus 로고    scopus 로고
    • Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    • COI: 1:CAS:528:DC%2BC3cXhtlykurjN, PID: 20643476
    • Burroughs LM, Torgerson TR, Storb R, Carpenter PA, Rawlings DJ, Sanders J, et al. Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. J Allergy Clin Immunol. 2010;126:1000–5.
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 1000-1005
    • Burroughs, L.M.1    Torgerson, T.R.2    Storb, R.3    Carpenter, P.A.4    Rawlings, D.J.5    Sanders, J.6
  • 10
    • 84890276011 scopus 로고    scopus 로고
    • An update on pulmonary complications of hematopoietic stem cell transplantation
    • PID: 24297123
    • Chi AK, Soubani AO, White AC, Miller KB. An update on pulmonary complications of hematopoietic stem cell transplantation. Chest. 2013;144:1913–22.
    • (2013) Chest , vol.144 , pp. 1913-1922
    • Chi, A.K.1    Soubani, A.O.2    White, A.C.3    Miller, K.B.4
  • 11
    • 34347364684 scopus 로고    scopus 로고
    • Large functional repertoire of regulatory T-cell suppressible autoimmune T-cells in scurfy mice
    • COI: 1:CAS:528:DC%2BD2sXnsFKktLg%3D
    • Sharma R, Jarjour WN, Zheng L, Gaskin F, Fu SM, Ju ST. Large functional repertoire of regulatory T-cell suppressible autoimmune T-cells in scurfy mice. J Autoimm. 2007;29:10–9.
    • (2007) J Autoimm , vol.29 , pp. 10-19
    • Sharma, R.1    Jarjour, W.N.2    Zheng, L.3    Gaskin, F.4    Fu, S.M.5    Ju, S.T.6
  • 12
    • 34247862225 scopus 로고    scopus 로고
    • Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene
    • COI: 1:CAS:528:DC%2BD2sXmsVyms78%3D, PID: 17484868
    • Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, et al. Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. Gastroenterology. 2007;132:1705–17.
    • (2007) Gastroenterology , vol.132 , pp. 1705-1717
    • Torgerson, T.R.1    Linane, A.2    Moes, N.3    Anover, S.4    Mateo, V.5    Rieux-Laucat, F.6
  • 13
    • 77956163134 scopus 로고    scopus 로고
    • Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy
    • COI: 1:CAS:528:DC%2BC3cXhtV2iurrE, PID: 20537998
    • Moes N, Rieux-Laucat F, Begue B, Verdier J, Neven B, Patey N, et al. Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. Gastroenterology. 2010;139:770–8.
    • (2010) Gastroenterology , vol.139 , pp. 770-778
    • Moes, N.1    Rieux-Laucat, F.2    Begue, B.3    Verdier, J.4    Neven, B.5    Patey, N.6
  • 15
    • 78649902529 scopus 로고    scopus 로고
    • Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells
    • COI: 1:CAS:528:DC%2BC3cXhsFantbfP, PID: 21036387
    • McMurchy AN, Gillies J, Allan SE, Passerini L, Gambineri E, Roncarolo MG, et al. Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells. J Allergy Clin Immunol. 2010;126:1242–51.
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 1242-1251
    • McMurchy, A.N.1    Gillies, J.2    Allan, S.E.3    Passerini, L.4    Gambineri, E.5    Roncarolo, M.G.6
  • 16
    • 34547821980 scopus 로고    scopus 로고
    • FOXP3 is a homo-oligomer and a component of a supramolecular regulatory complex disabled in the human XLAAD/IPEX autoimmune disease
    • COI: 1:CAS:528:DC%2BD2sXhtValtbbP, PID: 17586580
    • Li B, Samanta A, Song X, Iacono KT, Brennan P, Chatila TA, et al. FOXP3 is a homo-oligomer and a component of a supramolecular regulatory complex disabled in the human XLAAD/IPEX autoimmune disease. Int Immunol. 2007;19:825–35.
    • (2007) Int Immunol , vol.19 , pp. 825-835
    • Li, B.1    Samanta, A.2    Song, X.3    Iacono, K.T.4    Brennan, P.5    Chatila, T.A.6
  • 17
    • 33745211931 scopus 로고    scopus 로고
    • Defective regulatory and effector T cell functions in patients with FOXP3 mutations
    • COI: 1:CAS:528:DC%2BD28XlsFWqs7g%3D, PID: 16741580
    • Bacchetta R, Passerini L, Gambineri E, et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. 2006;116:1713–22.
    • (2006) J Clin Invest , vol.116 , pp. 1713-1722
    • Bacchetta, R.1    Passerini, L.2    Gambineri, E.3
  • 18
    • 33847220736 scopus 로고    scopus 로고
    • Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells
    • COI: 1:CAS:528:DC%2BD2sXhvFGitLY%3D, PID: 17237761
    • Zheng Y, Josefowicz SZ, Kas A, Chu TT, Gavin MA, Rudensky AY. Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells. Nature. 2007;445:936–40.
    • (2007) Nature , vol.445 , pp. 936-940
    • Zheng, Y.1    Josefowicz, S.Z.2    Kas, A.3    Chu, T.T.4    Gavin, M.A.5    Rudensky, A.Y.6
  • 19
    • 83455225616 scopus 로고    scopus 로고
    • FOXP3 orchestrates H4K16 acetylation and H3K4 trimethylation for activation of multiple genes by recruiting MOF and causing displacement of PLU-1
    • COI: 1:CAS:528:DC%2BC3MXhs1Sktb%2FJ, PID: 22152480
    • Katoh H, Qin ZS, Liu R, Wang L, Li W, Li X, et al. FOXP3 orchestrates H4K16 acetylation and H3K4 trimethylation for activation of multiple genes by recruiting MOF and causing displacement of PLU-1. Mol Cell. 2011;44:770–84.
    • (2011) Mol Cell , vol.44 , pp. 770-784
    • Katoh, H.1    Qin, Z.S.2    Liu, R.3    Wang, L.4    Li, W.5    Li, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.