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Intramural Research > Online Research Resources > X-linked SCID mutation database (IL2RGbase)

X-linked SCID mutation database (IL2RGbase)

References and Investigators

The information below corresponds to the Reference or Investigator column in the database tables.

Investigators

GSBGeneviève de Saint Basile
RFRoxanne E. Fischer
SFSebastian Fugmann
JPJennifer M. Puck
KSKlaus Schwartz
LNLuigi D. Notarangelo

References for Mutation Data Cited in Database

1Puck, 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 [Entrez]
 
2Noguchi, 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 [Entrez]
 
3DiSanto, 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 [Entrez]
 
4DiSanto, 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 [Entrez]
 
5Ishii, 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 [Entrez]
 
6Markiewicz, 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 [Entrez]
 
7Clark, 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 [Entrez]
 
8Kumaki, 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 [Entrez]
 
9Matthews, 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 [Entrez]
 
10Minegishi, 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 [Entrez]
 
11Pepper, 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 [Entrez]
 
12Puck, 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 [Entrez]
 
13Schmalstieg, 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 [Entrez]
 
14Tassara, 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 [Entrez]
 
15Hacein-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 [Entrez]
 
16Izuhara, 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 [Entrez]
 
17Morelon, 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 [Entrez]
 
18Stephan, 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 [Entrez]
 
19Tsuge, 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 [Entrez]
 
20Jones, 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 [Entrez]
 
21Jung, 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 [Entrez]
 
22O'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 [Entrez]
 
23Puck, 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 [Entrez]
 
24Puck, 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 [Entrez]
 
25Sharfe, N, Shahar, M, Roifman, CM 1997 An interleukin-2 receptor gamma chain mutation with normal thymus morphology. J Clin Invest 100(12):3036-43 [Entrez]
 
26Fugmann, 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 [Entrez]
 
27Wengler, 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 [Entrez]
 
28Kanai, 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 [Entrez]
 
29Kumaki, 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 [Entrez]
 
30Ting, 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 [Entrez]
 
31Cavazzana-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 [Entrez]
 
32Grunebaum, E, Zhang, J, Dadi, H, Roifman, CM 2000 Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency. Br J Haematol 108(4):834-7 [Entrez]
 
33Kumaki, 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 [Entrez]
 
34Mella, 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 [Entrez]
 
35Niemela, 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 [Entrez]
 
36Notarangelo, 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 [Entrez]
 
37White, 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 [Entrez]
 
38Gilmour, 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 [Entrez]
 
39Hacein-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 [Entrez]
 
40Ursini, 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 [Entrez]
 
41Westgren, 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 [Entrez]
 
42Ginn, 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 [Entrez]
 
43Jo, 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 [Entrez]
 

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