154 related articles for article (PubMed ID: 14966353)
1. X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
Jo EK; Kumaki S; Wei D; Tsuchiya S; Kanegane H; Song CH; Noh HY; Kim YO; Kim SY; Chung HY; Kim YH; Kook H
J Korean Med Sci; 2004 Feb; 19(1):123-6. PubMed ID: 14966353
[TBL] [Abstract][Full Text] [Related]
2. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
Puck JM; Pepper AE; Bédard PM; Laframboise R
J Clin Invest; 1995 Feb; 95(2):895-9. PubMed ID: 7860773
[TBL] [Abstract][Full Text] [Related]
3. [Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].
Kong X; Liu N; Xu X; Wu Q; Zhao Z; Bai Q; Meng J
Zhonghua Yi Xue Za Zhi; 2014 Apr; 94(16):1227-31. PubMed ID: 24924886
[TBL] [Abstract][Full Text] [Related]
4. [A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].
Zhang ZY; Zhao XD; Wang M; Yu J; An YF; Yang XQ
Zhonghua Er Ke Za Zhi; 2009 Sep; 47(9):691-5. PubMed ID: 20021794
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 8571541
[TBL] [Abstract][Full Text] [Related]
6. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Puck JM; Middelton L; Pepper AE
Hum Genet; 1997 May; 99(5):628-33. PubMed ID: 9150730
[TBL] [Abstract][Full Text] [Related]
7. T
Stepensky P; Keller B; Shamriz O; von Spee-Mayer C; Friedmann D; Shadur B; Unger S; Fuchs S; NaserEddin A; Rumman N; Amro S; Molho Pessach V; Abuzaitoun O; Somech R; Elpeleg O; Ehl S; Warnatz K
J Clin Immunol; 2018 May; 38(4):527-536. PubMed ID: 29948574
[TBL] [Abstract][Full Text] [Related]
8. Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.
Bai QL; Liu N; Kong XD; Xu XJ; Zhao ZH
Genet Mol Res; 2015 Jun; 14(2):6164-72. PubMed ID: 26125817
[TBL] [Abstract][Full Text] [Related]
9. The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c.
Leonard WJ; Noguchi M; Russell SM; McBride OW
Immunol Rev; 1994 Apr; 138():61-86. PubMed ID: 8070818
[TBL] [Abstract][Full Text] [Related]
10. Defining combined immunodeficiency.
Roifman CM; Somech R; Kavadas F; Pires L; Nahum A; Dalal I; Grunebaum E
J Allergy Clin Immunol; 2012 Jul; 130(1):177-83. PubMed ID: 22664165
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 8401490
[TBL] [Abstract][Full Text] [Related]
12. A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.
Mou W; He J; Chen X; Zhang H; Ren X; Wu X; Ni X; Xu B; Gui J
Immunogenetics; 2017 Jan; 69(1):29-38. PubMed ID: 27566612
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 7557965
[TBL] [Abstract][Full Text] [Related]
14. 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; 89(6):1968-77. PubMed ID: 9058718
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait.
Shin EK; Perryman LE; Meek K
J Am Vet Med Assoc; 1997 Nov; 211(10):1268-70. PubMed ID: 9373363
[TBL] [Abstract][Full Text] [Related]
16. Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes.
Tsuge I; Matsuoka H; Abe T; Kamachi Y; Torii S
Eur J Pediatr; 1996 Dec; 155(12):1018-24. PubMed ID: 8956936
[TBL] [Abstract][Full Text] [Related]
17. 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; 91(20):9466-70. PubMed ID: 7937790
[TBL] [Abstract][Full Text] [Related]
18. The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling.
Leonard WJ
Annu Rev Med; 1996; 47():229-39. PubMed ID: 8712778
[TBL] [Abstract][Full Text] [Related]
19. 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; 73(1):147-57. PubMed ID: 8462096
[TBL] [Abstract][Full Text] [Related]
20. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Macchi P; Villa A; Giliani S; Sacco MG; Frattini A; Porta F; Ugazio AG; Johnston JA; Candotti F; O'Shea JJ
Nature; 1995 Sep; 377(6544):65-8. PubMed ID: 7659163
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
