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Volumn 89, Issue 6, 1997, Pages 1968-1977

Mutation analysis of IL2RG in human x-linked severe combined immunodeficiency

Author keywords

[No Author keywords available]

Indexed keywords

CELL RECEPTOR; DNA; INTERLEUKIN 2; MESSENGER RNA; RNA;

EID: 0030899948     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (149)

References (40)
  • 1
    • 0017642631 scopus 로고
    • Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation
    • Bortin MM, Rimm AA: Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation. JAMA 238:591, 1977
    • (1977) JAMA , vol.238 , pp. 591
    • Bortin, M.M.1    Rimm, A.A.2
  • 3
    • 0028985611 scopus 로고
    • Primary immunodeficiency diseases
    • WHO Scientific Group on Immunodeficiency: Primary immunodeficiency diseases. Clin Exp Immunol 99:1, 1995
    • (1995) Clin Exp Immunol , vol.99 , pp. 1
  • 9
    • 0028847795 scopus 로고
    • Female germ line mosaicism as the origin of a unique IL-2 receptor γ-chain mutation causing X-linked severe combined immunodeficiency
    • Puck JM, Pepper AE, Bédard P-M, Laframboise R: Female germ line mosaicism as the origin of a unique IL-2 receptor γ-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 95:895, 1995
    • (1995) J Clin Invest , vol.95 , pp. 895
    • Puck, J.M.1    Pepper, A.E.2    Bédard, P.-M.3    Laframboise, R.4
  • 10
    • 0029161486 scopus 로고
    • Two mutational hotspots in the interleukin-2 receptor γ chain causing X-linked severe combined immunodeficiency
    • Pepper AE, Buckley RH, Small TN, Puck JM: Two mutational hotspots in the interleukin-2 receptor γ chain causing X-linked severe combined immunodeficiency. Am J Hum Genet 57:564, 1995
    • (1995) Am J Hum Genet , vol.57 , pp. 564
    • Pepper, A.E.1    Buckley, R.H.2    Small, T.N.3    Puck, J.M.4
  • 11
    • 0029161884 scopus 로고
    • Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency
    • Tassara C, Pepper AE, Puck JM: Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum Mol Genet 4:1693, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 1693
    • Tassara, C.1    Pepper, A.E.2    Puck, J.M.3
  • 12
    • 0028009181 scopus 로고
    • Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding
    • DiSanto JP, Dautry-Varsat A, Certain S, Fischer A, de Saint Basile G: Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur J Immunol 24:475, 1994
    • (1994) Eur J Immunol , vol.24 , pp. 475
    • DiSanto, J.P.1    Dautry-Varsat, A.2    Certain, S.3    Fischer, A.4    De Saint Basile, G.5
  • 13
    • 0028087777 scopus 로고
    • Defective human interleukin 2 receptor γ chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
    • DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, de Saint Basile G: Defective human interleukin 2 receptor γ chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci USA 91:9466, 1994
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 9466
    • DiSanto, J.P.1    Rieux-Laucat, F.2    Dautry-Varsat, A.3    Fischer, A.4    De Saint Basile, G.5
  • 14
    • 0028243660 scopus 로고
    • Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ chains in patients with X-linked severe combined immunodeficiency
    • Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, Konno T, Maeda M, Uchiyama T, Sugamura K: Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ chains in patients with X-linked severe combined immunodeficiency. J Immunol 153:1310, 1994
    • (1994) J Immunol , vol.153 , pp. 1310
    • Ishii, N.1    Asao, H.2    Kimura, Y.3    Takeshita, T.4    Nakamura, M.5    Tsuchiya, S.6    Konno, T.7    Maeda, M.8    Uchiyama, T.9    Sugamura, K.10
  • 15
    • 0028177030 scopus 로고
    • Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor γ chain gene in SCIDX1 that differently affect the mRNA processing
    • Markiewitz S, Subtil A, Dautry-Varsat A, Fischer A, de Saint Basile G: Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor γ chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21:291, 1994
    • (1994) Genomics , vol.21 , pp. 291
    • Markiewitz, S.1    Subtil, A.2    Dautry-Varsat, A.3    Fischer, A.4    De Saint Basile, G.5
  • 16
    • 0029102233 scopus 로고
    • Screening for mutations causing X-linked severe combined immunodeficiency in the 1L-2Rγ chain gene by single-strand conformation polymorphism analysis
    • Clark PA, Lester T, Genet S, Jones AM, Hendriks R, Levinsky RL, Kinnon C: Screening for mutations causing X-linked severe combined immunodeficiency in the 1L-2Rγ chain gene by single-strand conformation polymorphism analysis. Hum Genet 96:427, 1995
    • (1995) Hum Genet , vol.96 , pp. 427
    • Clark, P.A.1    Lester, T.2    Genet, S.3    Jones, A.M.4    Hendriks, R.5    Levinsky, R.L.6    Kinnon, C.7
  • 17
    • 0028818754 scopus 로고
    • Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency
    • Minegishi Y, Ishii N, Maeda H, Takagi S, Tsuchida M, Okawa H, Sugamura K, Yata J-I: Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency. Hum Genet 96:681, 1995
    • (1995) Hum Genet , vol.96 , pp. 681
    • Minegishi, Y.1    Ishii, N.2    Maeda, H.3    Takagi, S.4    Tsuchida, M.5    Okawa, H.6    Sugamura, K.7    Yata, J.-I.8
  • 18
    • 0029086125 scopus 로고
    • Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: Interleukin-15 binds to the B cells but is not internalized efficiently
    • Kumaki S, Ochs HD. Timour M, Schooley K, Ahdieh M, Hill H, Sugamura K, Anderson D, Zhu Q, Cosman D, Giri JG: Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: Interleukin-15 binds to the B cells but is not internalized efficiently. Blood 86:1428, 1995
    • (1995) Blood , vol.86 , pp. 1428
    • Kumaki, S.1    Ochs, H.D.2    Timour, M.3    Schooley, K.4    Ahdieh, M.5    Hill, H.6    Sugamura, K.7    Anderson, D.8    Zhu, Q.9    Cosman, D.10    Giri, J.G.11
  • 19
    • 0030028353 scopus 로고    scopus 로고
    • Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients
    • Izuhara K, Heike T, Otsuka T, Yamaoka K, Mayumi M, Imamura T, Niho Y, Harada N: Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. J Biol Chem 271:619, 1996
    • (1996) J Biol Chem , vol.271 , pp. 619
    • Izuhara, K.1    Heike, T.2    Otsuka, T.3    Yamaoka, K.4    Mayumi, M.5    Imamura, T.6    Niho, Y.7    Harada, N.8
  • 21
    • 0003331946 scopus 로고
    • Generation of Epstein-Barr virus (EBV)-immortalized B cell lines
    • Coligan JE, Kruisbeek AM, Margulies DH, Shevach EM, Strober W (eds): New York, NY, Wiley and Sons
    • Tosato G: Generation of Epstein-Barr virus (EBV)-immortalized B cell lines, in Coligan JE, Kruisbeek AM, Margulies DH, Shevach EM, Strober W (eds): Current Protocols in Immunology. New York, NY, Wiley and Sons, 1995, p 7.22.1
    • (1995) Current Protocols in Immunology , pp. 7221
    • Tosato, G.1
  • 22
    • 0026607007 scopus 로고
    • Maximum likelihood analysis of human T-cell X chromosome inactivation patterns: Normal women versus carriers of X-linked severe combined immunodeficiency
    • Puck JM, Stewart CC, Nussbaum RL: Maximum likelihood analysis of human T-cell X chromosome inactivation patterns: Normal women versus carriers of X-linked severe combined immunodeficiency. Am J Hum Genet 50:742, 1992
    • (1992) Am J Hum Genet , vol.50 , pp. 742
    • Puck, J.M.1    Stewart, C.C.2    Nussbaum, R.L.3
  • 23
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229, 1992
    • (1992) Am J Hum Genet , vol.51 , pp. 1229
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 24
    • 0027483761 scopus 로고
    • Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13
    • Puck JM, Conley ME, Bailey LC: Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13. Am J Hum Genet 53:176, 1993
    • (1993) Am J Hum Genet , vol.53 , pp. 176
    • Puck, J.M.1    Conley, M.E.2    Bailey, L.C.3
  • 25
    • 0028226796 scopus 로고
    • Molecular and genetic basis of X-linked immunodeficiency disorders
    • Puck JM: Molecular and genetic basis of X-linked immunodeficiency disorders. J Clin Immunol 14:81, 1994
    • (1994) J Clin Immunol , vol.14 , pp. 81
    • Puck, J.M.1
  • 26
    • 0026611384 scopus 로고
    • Dideoxy fingerprinting (DDF): A rapid and efficient screen for the presence of mutations
    • Sarkar G, Yoon H, Sommer SS: Dideoxy fingerprinting (DDF): A rapid and efficient screen for the presence of mutations. Genomics 13:441, 1992
    • (1992) Genomics , vol.13 , pp. 441
    • Sarkar, G.1    Yoon, H.2    Sommer, S.S.3
  • 27
    • 0028023210 scopus 로고
    • Expression of the interleukin-2 (IL-2) receptor γ chain on various populations in human peripheral blood
    • Ishii N, Takeshita T, Kimura Y, Tada K, Kondo M, Nakamura M, Sugamura K: Expression of the interleukin-2 (IL-2) receptor γ chain on various populations in human peripheral blood. Int Immunol 6:1273, 1994
    • (1994) Int Immunol , vol.6 , pp. 1273
    • Ishii, N.1    Takeshita, T.2    Kimura, Y.3    Tada, K.4    Kondo, M.5    Nakamura, M.6    Sugamura, K.7
  • 28
    • 0023188706 scopus 로고
    • Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation
    • Puck JM, Nussbaum RL, Conley ME: Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest 79:1395, 1987
    • (1987) J Clin Invest , vol.79 , pp. 1395
    • Puck, J.M.1    Nussbaum, R.L.2    Conley, M.E.3
  • 29
    • 0027389162 scopus 로고
    • T-cell depleted maternal bone marrow transplant for siblings with severe combined immunodeficiency
    • Himelstein BP, Puck JM, August C, Pierson G, Bunin NP: T-cell depleted maternal bone marrow transplant for siblings with severe combined immunodeficiency. J Pediatr 122:289, 1993
    • (1993) J Pediatr , vol.122 , pp. 289
    • Himelstein, B.P.1    Puck, J.M.2    August, C.3    Pierson, G.4    Bunin, N.P.5
  • 30
    • 0014433553 scopus 로고
    • Immunological reconstitution of sex-linked lymphopenic immunological deficiency
    • Gatti RA, Allen HD, Meuwissen HJ, Hong R, Good RA: Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet 2:1366, 1968
    • (1968) Lancet , vol.2 , pp. 1366
    • Gatti, R.A.1    Allen, H.D.2    Meuwissen, H.J.3    Hong, R.4    Good, R.A.5
  • 33
    • 84970061068 scopus 로고
    • Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
    • Rosenthal A, Jouet M, Kenwrick S: Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet 2:107, 1992
    • (1992) Nat Genet , vol.2 , pp. 107
    • Rosenthal, A.1    Jouet, M.2    Kenwrick, S.3
  • 38
    • 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, Brockstein JA, Pahwa S, Puck JM: X-linked severe combined immunodeficiency: Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest 85:1548, 1990
    • (1990) J Clin Invest , vol.85 , pp. 1548
    • Conley, M.E.1    Buckley, R.H.2    Hong, R.3    Guerra-Hanson, C.4    Roifman, C.M.5    Brockstein, J.A.6    Pahwa, S.7    Puck, J.M.8
  • 39
  • 40
    • 0028921573 scopus 로고
    • Jaks and Stats in signaling by the cytokine receptor superfamily
    • Ihle JN, Kerr IM: Jaks and Stats in signaling by the cytokine receptor superfamily. Trends Genet 11:69, 1995
    • (1995) Trends Genet , vol.11 , pp. 69
    • Ihle, J.N.1    Kerr, I.M.2


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