Genetics and Molecular Biology Branch

DIR Projects

References and Investigators

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

Investigators

GSB	Geneviève de Saint Basile
RF	Roxanne E. Fischer
SF	Sebastian Fugmann
JP	Jennifer M. Puck
KS	Klaus Schwarz

References for Mutation Data Cited in Database

1	Bortin, M.M., Rimm, A.A.. Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation. J. A. M. A. 238: 591-600, 1977. [Entrez]
2	Stephan, J.L., Vlekova, V., Le Deist, F., Blanche, S., Donadieu, J., De Saint Basile, G., Durandy, A., Griscelli, C., Fischer, A.. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr. 123: 564-572, 1993. [Entrez]
3	WHO Scientific Group Report. Primary immunodeficiency diseases. Clin. Exp. Immunol. 99: 1-24, 1995. [Entrez]
4	de Saint Basile, G., Arveiler, B., Oberle, I., Malcolm, S., Levinsky, R., Lau, T., Hofker, M., Debre, M., Fischer, A., Griscelli, C., Mandel, J.L.. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Proc. Nat. Acad. Sci. USA 84: 7576-7579, 1987. [Entrez]
5	Puck, J.M., Conley, M.E., Bailey, L.C.. Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13. Am. J. Hum. Genet. 53: 176-184, 1993. [Entrez]
6	Takeshita, T., Asao, H., Ohtani, K., Ishii, N., Kumaki, S., Tanaka, N., Munakata, H., Nakamura, M., Sugamura, K.. Cloning of the gamma chain of the human IL-2 receptor. Science 257: 379-382, 1992. [Entrez]
7	Noguchi, M., Huafang, Y., Rosenblatt, H.M., Filipovitch, A.H., Adelstein, S., Modi, W.S., McBride, O.W., Leonard, W.J.. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157, 1993. [Entrez]
8	Puck, J.M., Deschenes, S.M., Porter, J.C., Dutra, A.S., Brown, C.J., Willard, H.F., Henthorn, P.S.. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2: 1099-1104, 1993. [Entrez]
9	Puck, J.M., Pepper, A.E., Bedard, P.M., Laframboise, R.. 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: 895-899, 1995. [Entrez]
10	Pepper, A.E., Buckley, R.H., Small, T.N., Puck, J. M.. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am. J. Hum. Genet. 57: 564-571, 1995. [Entrez]
11	Tassara, C., Pepper, A.E., Puck, J.M.. Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum. Mol. Genet. 4: 1693-1695, 1995. [Entrez]
12	DiSanto, J.P., Dautry-Varsat, A., Certain, S., Fischer, A., de Saint Basile, G.. 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: 475-479, 1994. [Entrez]
13	DiSanto, J.P., Rieux-Laucat, F., Dautry-Varsat, A., Fischer, A., de Saint Basile, G.. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc. Nat. Acad. Sci. USA 91: 9466-9470, 1994. [Entrez]
14	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 gamma-chains in patients with X-linked severe combined immunodeficiency. J. Immunol. 153: 1310-1317, 1994. [Entrez]
15	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 gamma chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21: 291-293, 1994. [Entrez]
16	Russell, S.M., Johnston, J.A., Noguchi, M., Kawamura, M., Bacon, C.M., Friedmann, M., Berg, M., McVicar, D.W., Witthuhn, B.A., Silvennoinen, O., Goldman, A.S., Schmalstieg, F.C., Ihle, J.N., O'Shea, J.J., Leonard, W.J.. Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. Science 266: 1042-1045, 1994. [Entrez]
17	Clark, P.A., Lester, T., Genet, S., Jones, A.M., Hendriks, R., Levinsky, R.L., Kinnon, C.. 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: 427-432, 1995. [Entrez]
18	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 gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency. Hum. Genet. 96: 681-683, 1995. [Entrez]
19	Kumaki, S., Ochs, H.D., Timour, M., Schooley, K., Ahdieh, M., Hill, H., Sugamura, K., Anderson, K., Zhu, Q., Cosman, D., Giri, J.. 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: 1428-1436, 1995. [Entrez]
20	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: 619-622, 1996. [Entrez]
21	Hacien-Bey, S., Cavazzana-Calvo, M., Le Deist, F., Dautry-Varsat, A., Hivroz, C., Riviere, I., Danos, O., Heard,. J.M., Sugamura, K., Fischer, A., De Saint Basile, G.. Gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. Blood 87: 3108-3116, 1996. [Entrez]
22	Kuno, K., Okamoto, S.-I., Hirose, K., Marakami, S., Matsushima, K.. Structure and function of the intracellular portion of the mouse interleukin 1 receptor (type I). Determining the essential region for transducing signals to activate the interleukin 8 gene. J. Biol. Chem. 268: 13510-13518, 1993. [Entrez]
23	Miazaki, T., Kawahara, A, Fujii, H. Nakagawa, Y. Minami, Y, Liu, Z.J., Oishi, I., Silvennoinen, O., Witthuhm, B.A., Ihle, J.N., et. al. Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science 266: 1045-1047, 1994. [Entrez]
24	Kanai, N., Yanai, F., Hirose, S., Nibu, K., Izuhara, K., Tani, T., Kubota, T., Mitsudome, A.. 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, 1999. [Entrez]
25	Wengler, G.S., Giliani, S., Fiorini, M., Mella, P., Mantuano, E., Zanola, A., Pollonini, G., Eibl, M.M., Ugazio, A.G., Notarangelo, L.D., Parolini, O.. 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): 586-591, 1998. [Entrez]
26	Ting, S.S., Leigh, D., Lindeman, R., Ziegler, J.B.. Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. Br J Haematol 106(1): 190-194, 1999. [Entrez]