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Items: 1 to 20 of 155

1.

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

O'Marcaigh AS, Puck JM, Pepper AE, De Santes K, Cowan MJ.

J Clin Immunol. 1997 Jan;17(1):29-33.

PMID:
9049783
2.
3.

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH.

Blood. 1997 Mar 15;89(6):1968-77.

4.
5.

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

Jones AM, Clark PA, Katz F, Genet S, McMahon C, Alterman L, Cant A, Kinnon C.

Hum Genet. 1997 May;99(5):677-80.

PMID:
9150740
6.

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS.

Hum Mol Genet. 1993 Aug;2(8):1099-104.

PMID:
8401490
7.

Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).

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.

Hum Genet. 2000 Oct;107(4):406-8.

PMID:
11129345
8.
9.

Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.

Fugmann SD, Müller S, Friedrich W, Bartram CR, Schwarz K.

Hum Genet. 1998 Dec;103(6):730-1.

PMID:
9921912
10.

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.

Clark PA, Lester T, Genet S, Jones AM, Hendriks R, Levinsky RJ, Kinnon C.

Hum Genet. 1995 Oct;96(4):427-32.

PMID:
7557965
11.

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.

Matthews DJ, Clark PA, Herbert J, Morgan G, Armitage RJ, Kinnon C, Minty A, Grabstein KH, Caput D, Ferrara P, et al.

Blood. 1995 Jan 1;85(1):38-42.

12.
13.

Defective human interleukin 2 receptor gamma 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.

Proc Natl Acad Sci U S A. 1994 Sep 27;91(20):9466-70.

14.

Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras.

Tsai EJ, Malech HL, Kirby MR, Hsu AP, Seidel NE, Porada CD, Zanjani ED, Bodine DM, Puck JM.

Blood. 2002 Jul 1;100(1):72-9.

15.

Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.

Avilés Mendoza GJ, Seidel NE, Otsu M, Anderson SM, Simon-Stoos K, Herrera A, Hoogstraten-Miller S, Malech HL, Candotti F, Puck JM, Bodine DM.

Mol Ther. 2001 Apr;3(4):565-73.

16.

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.

Tassara C, Pepper AE, Puck JM.

Hum Mol Genet. 1995 Sep;4(9):1693-5. No abstract available.

PMID:
8541866
17.

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.

Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ.

Cell. 1993 Apr 9;73(1):147-57.

PMID:
8462096
18.

A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease.

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS.

Vet Immunol Immunopathol. 1995 Aug;47(3-4):203-13.

PMID:
8571541
19.

X-linked SCID and other defects of cytokine pathways.

Uribe L, Weinberg KI.

Semin Hematol. 1998 Oct;35(4):299-309. Review.

PMID:
9801259
20.

Three novel mutations in the interleukin-2 receptor gamma 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.

Hum Genet. 1995 Dec;96(6):681-3.

PMID:
8522327
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