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Volumn 99, Issue 5, 1997, Pages 677-680

B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; RECEPTOR SUBUNIT;

EID: 0030937723     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050428     Document Type: Article
Times cited : (13)

References (16)
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    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 3
    • 0029102233 scopus 로고
    • Screening for mutations causing X-linked severe combined immunodeficiency in the lL-2Rγ chain gene by single-strand conformation polymorphism analysis
    • Clark PA, Lester T, Genet S, Jones AM, Hendriks R, Levinsky RJ, Kinnon C (1995) Screening for mutations causing X-linked severe combined immunodeficiency in the lL-2Rγ chain gene by single-strand conformation polymorphism analysis. Hum Genet 96:427-432
    • (1995) Hum Genet , vol.96 , pp. 427-432
    • Clark, P.A.1    Lester, T.2    Genet, S.3    Jones, A.M.4    Hendriks, R.5    Levinsky, R.J.6    Kinnon, C.7
  • 4
    • 2242434790 scopus 로고
    • Non-random X chromosome inactivation in B cells from carriers of X-linked severe combined immunodeficiency
    • Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM (1988) Non-random X chromosome inactivation in B cells from carriers of X-linked severe combined immunodeficiency. Proc Natl Acad Sci USA 85:3090-3094
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 3090-3094
    • Conley, M.E.1    Lavoie, A.2    Briggs, C.3    Brown, P.4    Guerra, C.5    Puck, J.M.6
  • 5
    • 0025290819 scopus 로고
    • X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings
    • Conley ME, Buckley RH, Hong R, Guerra-Hanson C, Roifman CM, Brochstein JA, Pahwa S, Puck JM (1990) X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest 85:1548-1554
    • (1990) J Clin Invest , vol.85 , pp. 1548-1554
    • Conley, M.E.1    Buckley, R.H.2    Hong, R.3    Guerra-Hanson, C.4    Roifman, C.M.5    Brochstein, J.A.6    Pahwa, S.7    Puck, J.M.8
  • 7
    • 0028087777 scopus 로고
    • Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
    • Di Santo JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, Saint Basile G de (1994) Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci USA 91:9466-9470
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 9466-9470
    • Di Santo, J.P.1    Rieux-Laucat, F.2    Dautry-Varsat, A.3    Fischer, A.4    De Saint Basile, G.5
  • 8
    • 0025752980 scopus 로고
    • Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
    • Eiken HG, Odland E, Boman H, Skjelkvale L, Engebretson LF, Apold J (1991) Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19:1427-1430
    • (1991) Nucleic Acids Res , vol.19 , pp. 1427-1430
    • Eiken, H.G.1    Odland, E.2    Boman, H.3    Skjelkvale, L.4    Engebretson, L.F.5    Apold, J.6
  • 10
    • 0023857417 scopus 로고
    • Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency
    • Goodship J, Malcolm S, Lau YL, Pembrey ME, Levinsky RJ (1988) Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. Lancet I:729-732
    • (1988) Lancet , vol.1 , pp. 729-732
    • Goodship, J.1    Malcolm, S.2    Lau, Y.L.3    Pembrey, M.E.4    Levinsky, R.J.5
  • 11
    • 0017810848 scopus 로고
    • Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immuno-deficiency disease
    • Griscelli C, Durandy A, Virelizier JL, Ballet JJ, Daguillard F (1978) Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immuno-deficiency disease. J Pediatr 93:404-411
    • (1978) J Pediatr , vol.93 , pp. 404-411
    • Griscelli, C.1    Durandy, A.2    Virelizier, J.L.3    Ballet, J.J.4    Daguillard, F.5
  • 12
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    • Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper-IgM syndrome
    • Katz F, Hinshelwood S, Rutland P, Jones A, Kinnon C, Morgan G (1996) Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper-IgM syndrome. Hum Mutat 8:223-228
    • (1996) Hum Mutat , vol.8 , pp. 223-228
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  • 13
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    • Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
    • Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah A.-M, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA (1995) Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum Mol Genet 4: 1119-1126
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.