References and Investigators
The information below corresponds to the Reference or Investigator column in the database tables.
GSB | Geneviève de Saint Basile |
RF | Roxanne E. Fischer |
SF | Sebastian Fugmann |
JP | Jennifer M. Puck |
KS | Klaus Schwartz |
LN | Luigi D. Notarangelo |
References for Mutation Data Cited in Database
1 | Puck, JM, Deschênes, SM, Porter, JC, Dutra, AS, Brown, CJ, Willard, HF, Henthorn, PS 1993 The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 2(8):1099-104
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2 | Noguchi, M, Yi, H, Rosenblatt, HM, Filipovich, AH, Adelstein, S, Modi, WS, McBride, OW, Leonard, WJ 1993 Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73(1):147-57
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3 | DiSanto, JP, Dautry-Varsat, A, Certain, S, Fischer, A, de Saint Basile, G 1994 Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur J Immunol 24(2):475-9
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4 | DiSanto, JP, Rieux-Laucat, F, Dautry-Varsat, A, Fischer, A, de Saint Basile, G 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 U S A 91(20):9466-70
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5 | Ishii, N, Asao, H, Kimura, Y, Takeshita, T, Nakamura, M, Tsuchiya, S, Konno, T, Maeda, M, Uchiyama, T, Sugamura, K 1994 Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency. J Immunol 153(3):1310-7
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6 | Markiewicz, S, Subtil, A, Dautry-Varsat, A, Fischer, A, de Saint Basile, G 1994 Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21(1):291-3
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7 | 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 IL-2R gamma chain gene by single-strand conformation polymorphism analysis. Hum Genet 96(4):427-32
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8 | Kumaki, S, Ochs, HD, Timour, M, Schooley, K, Ahdieh, M, Hill, H, Sugamura, K, Anderson, D, Zhu, Q, Cosman, D 1995 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(4):1428-36
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9 | Matthews, DJ, Clark, PA, Herbert, J, Morgan, G, Armitage, RJ, Kinnon, C, Minty, A, Grabstein, KH, Caput, D, Ferrara, P 1995 Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15. Blood 85(1):38-42
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10 | Minegishi, Y, Ishii, N, Maeda, H, Takagi, S, Tsuchida, M, Okawa, H, Sugamura, K, Yata, J 1995 Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency. Hum Genet 96(6):681-3
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11 | Pepper, AE, Buckley, RH, Small, TN, Puck, JM 1995 Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am J Hum Genet 57(3):564-71
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12 | Puck, JM, Pepper, AE, Bédard, PM, Laframboise, R 1995 Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 95(2):895-9
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13 | Schmalstieg, FC, Leonard, WJ, Noguchi, M, Berg, M, Rudloff, HE, Denney, RM, Dave, SK, Brooks, EG, Goldman, AS 1995 Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest 95(3):1169-73
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14 | Tassara, C, Pepper, AE, Puck, JM 1995 Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum Mol Genet 4(9):1693-5
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15 | Hacein-Bey, H, Cavazzana-Calvo, M, Le Deist, F, Dautry-Varsat, A, Hivroz, C, Rivière, I, Danos, O, Heard, JM, Sugamura, K, Fischer, A, De Saint Basile, G 1996 gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. Blood 87(8):3108-16
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16 | Izuhara, K, Heike, T, Otsuka, T, Yamaoka, K, Mayumi, M, Imamura, T, Niho, Y, Harada, N 1996 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(2):619-22
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17 | Morelon, E, Dautry-Varsat, A, Le Deist, F, Hacein-Bay, S, Fischer, A, de Saint Basile, G 1996 T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient. Blood 88(5):1708-17
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18 | Stephan, V, Wahn, V, Le Deist, F, Dirksen, U, Broker, B, Müller-Fleckenstein, I, Horneff, G, Schroten, H, Fischer, A, de Saint Basile, G 1996 Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 335(21):1563-7
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19 | Tsuge, I, Matsuoka, H, Abe, T, Kamachi, Y, Torii, S 1996 Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes. Eur J Pediatr 155(12):1018-24
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20 | Jones, AM, Clark, PA, Katz, F, Genet, S, McMahon, C, Alterman, L, Cant, A, Kinnon, C 1997 B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. Hum Genet 99(5):677-80
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21 | Jung, EY, Heike, T, Katamura, K, Kimata, H, Ohmori, K, Morikawa, Y, Ishii, N, Mayumi, M 1997 X-linked severe combined immunodeficiency with gamma delta T cells. Acta Paediatr Jpn 39(4):442-7
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22 | O'Marcaigh, AS, Puck, JM, Pepper, AE, De Santes, K, Cowan, MJ 1997 Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. J Clin Immunol 17(1):29-33
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23 | Puck, JM, Middelton, L, Pepper, AE 1997 Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. Hum Genet 99(5):628-33
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24 | Puck, JM, Pepper, AE, Henthorn, PS, Candotti, F, Isakov, J, Whitwam, T, Conley, ME, Fischer, RE, Rosenblatt, HM, Small, TN, Buckley, RH 1997 Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 89(6):1968-77
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25 | Sharfe, N, Shahar, M, Roifman, CM 1997 An interleukin-2 receptor gamma chain mutation with normal thymus morphology. J Clin Invest 100(12):3036-43
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26 | Fugmann, SD, Müller, S, Friedrich, W, Bartram, CR, Schwarz, K 1998 Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency. Hum Genet 103(6):730-1
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27 | Wengler, GS, Giliani, S, Fiorini, M, Mella, P, Mantuano, E, Zanola, A, Pollonini, G, Eibl, MM, Ugazio, AG, Notarangelo, LD, Parolini, O 1998 Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). Br J Haematol 101(3):586-91
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28 | Kanai, N, Yanai, F, Hirose, S, Nibu, K, Izuhara, K, Tani, T, Kubota, T, Mitsudome, A 1999 A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency. Hum Genet 104(1):36-42
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29 | Kumaki, S, Ochs, HD, Kuropatwinski, KK, Konno, T, Timour, MS, Cosman, D, Baumann, H 1999 A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action. Clin Exp Immunol 115(2):356-61
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30 | Ting, SS, Leigh, D, Lindeman, R, Ziegler, JB 1999 Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. Br J Haematol 106(1):190-4
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31 | Cavazzana-Calvo, M, Hacein-Bey, S, de Saint Basile, G, Gross, F, Yvon, E, Nusbaum, P, Selz, F, Hue, C, Certain, S, Casanova, JL, Bousso, P, Deist, FL, Fischer, A 2000 Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288(5466):669-72
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32 | Grunebaum, E, Zhang, J, Dadi, H, Roifman, CM 2000 Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency. Br J Haematol 108(4):834-7
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33 | Kumaki, S, Ishii, N, Minegishi, M, Ohashi, Y, Hakozaki, I, Nonoyama, S, Imai, K, Morio, T, Tsuge, I, Sakiyama, Y, Miyanoshita, A, Miura, J, Mayumi, M, Heike, T, Katamura, K, Takada, H, Izumi, I, Kamizono, J, Hibi, S, Sasaki, H, Kimura, M, Kikuta, A, Date, Y, Sako, M, Tanaka, H, Sano, K, Sugamura, K, Tsuchiya, S 2000 Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). Hum Genet 107(4):406-8
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34 | Mella, P, Imberti, L, Brugnoni, D, Pirovano, S, Candotti, F, Mazzolari, E, Bettinardi, A, Fiorini, M, De Mattia, D, Martire, B, Plebani, A, Notarangelo, LD, Giliani, S 2000 Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization. Clin Immunol 95(1 Pt 1):39-50
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35 | Niemela, JE, Puck, JM, Fischer, RE, Fleisher, TA, Hsu, AP 2000 Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol 95(1 Pt 1):33-8
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36 | Notarangelo, LD, Giliani, S, Mazza, C, Mella, P, Savoldi, G, Rodriguez-Pérez, C, Mazzolari, E, Fiorini, M, Duse, M, Plebani, A, Ugazio, AG, Vihinen, M, Candotti, F, Schumacher, RF 2000 Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model. Immunol Rev 178:39-48
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37 | White, H, Thrasher, A, Veys, P, Kinnon, C, Gaspar, HB 2000 Intrinsic defects of B cell function in X-linked severe combined immunodeficiency. Eur J Immunol 30(3):732-7
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38 | Gilmour, KC, Cranston, T, Loughlin, S, Gwyther, J, Lester, T, Espanol, T, Hernandez, M, Savoldi, G, Davies, EG, Abinun, M, Kinnon, C, Jones, A, Gaspar, HB 2001 Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency. Br J Haematol 112(3):671-6
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39 | Hacein-Bey-Abina, S, Le Deist, F, Carlier, F, Bouneaud, C, Hue, C, De Villartay, JP, Thrasher, AJ, Wulffraat, N, Sorensen, R, Dupuis-Girod, S, Fischer, A, Davies, EG, Kuis, W, Leiva, L, Cavazzana-Calvo, M 2002 Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 346(16):1185-93
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40 | Ursini, MV, Gaetaniello, L, Ambrosio, R, Matrecano, E, Apicella, AJ, Salerno, MC, Pignata, C 2002 Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness. Clin Exp Immunol 129(3):502-9
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41 | Westgren, M, Ringdén, O, Bartmann, P, Bui, TH, Lindton, B, Mattsson, J, Uzunel, M, Zetterquist, H, Hansmann, M 2002 Prenatal T-cell reconstitution after in utero transplantation with fetal liver cells in a patient with X-linked severe combined immunodeficiency. Am J Obstet Gynecol 187(2):475-82
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42 | Ginn, SL, Smyth, C, Wong, M, Bennetts, B, Rowe, PB, Alexander, IE 2004 A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype. Hum Mutat 23(5):522-3
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43 | Jo, EK, Kumaki, S, Wei, D, Tsuchiya, S, Kanegane, H, Song, CH, Noh, HY, Kim, YO, Kim, SY, Chung, HY, Kim, YH, Kook, H 2004 X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling. J Korean Med Sci 19(1):123-6
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