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Volumn 132, Issue 1, 2013, Pages 223-226

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; DYSKERIN; IMMUNOGLOBULIN G; MESALAZINE; OXYMETHOLONE;

EID: 84882908329     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.11.052     Document Type: Article
Times cited : (18)

References (10)
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    • Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010;24:101-22.
    • (2010) Blood Rev , vol.24 , pp. 101-122
    • Shimamura, A.1    Alter, B.P.2
  • 3
    • 38349144367 scopus 로고    scopus 로고
    • Dyskeratosis congenita: A genetic disorder of many faces
    • Kirwin M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet 2008;73:103-12.
    • (2008) Clin Genet , vol.73 , pp. 103-112
    • Kirwin, M.1    Dokal, I.2
  • 4
    • 79953325915 scopus 로고    scopus 로고
    • Dyskeratosis congenita: A combined immunodeficiency with broad clinical spectrum-a single-center pediatric experience
    • Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum-a single-center pediatric experience. Pediatr Allergy Immunol 2011;22:313-9.
    • (2011) Pediatr Allergy Immunol , vol.22 , pp. 313-319
    • Jyonouchi, S.1    Forbes, L.2    Ruchelli, E.3    Sullivan, K.E.4
  • 6
    • 11244310960 scopus 로고    scopus 로고
    • Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita
    • Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood 2005;105:683-8.
    • (2005) Blood , vol.105 , pp. 683-688
    • Knudson, M.1    Kulkarni, S.2    Ballas, Z.K.3    Bessler, M.4    Goldman, F.5
  • 7
    • 34548828783 scopus 로고    scopus 로고
    • Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
    • Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007;110:1439-47.
    • (2007) Blood , vol.110 , pp. 1439-1447
    • Alter, B.P.1    Baerlocher, G.M.2    Savage, S.A.3    Chanock, S.J.4    Weksler, B.B.5    Willner, J.P.6
  • 8
    • 79955526833 scopus 로고    scopus 로고
    • Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
    • Parry EM, Alder JK, Lee SS, Phillips JA 3rd, Loyd JE, Duggal P, et al. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. J Med Genet 2011;48:327-33.
    • (2011) J Med Genet , vol.48 , pp. 327-333
    • Parry, E.M.1    Alder, J.K.2    Lee, S.S.3    Phillips III, J.A.4    Loyd, J.E.5    Duggal, P.6
  • 9
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000;110:768-79.
    • (2000) Br J Haematol , vol.110 , pp. 768-779
    • Dokal, I.1
  • 10
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    • Lung transplan tation for pulmonary fibrosis in dyskeratosis congenital: Case report and systemic literature review
    • Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, et al. Lung transplan tation for pulmonary fibrosis in dyskeratosis congenital: case report and systemic literature review. BMC Blood Disorders 2011;11:3.
    • (2011) BMC Blood Disorders , vol.11 , pp. 3
    • Giri, N.1    Lee, R.2    Faro, A.3    Huddleston, C.B.4    White, F.V.5    Alter, B.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.