101 related articles for article (PubMed ID: 23683512)
1. Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L; González-Roca E; Giner MT; Piquer M; Puga I; Pascal M; Ruiz-Ortiz E; Badell I; Martín-Mateos MA; Cerutti A; Juan M; Yagüe J; Plaza AM; Aróstegui JI
J Allergy Clin Immunol; 2013 Sep; 132(3):741-743.e2. PubMed ID: 23683512
[No Abstract] [Full Text] [Related]
2. Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency.
Hara Y; Kobayashi N; Maruyama Y; Motobayashi M; Shigemura T; Ohara O; Agematsu K; Koike K
J Investig Allergol Clin Immunol; 2015; 25(4):313-5. PubMed ID: 26310054
[No 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. Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.
Okuno Y; Hoshino A; Muramatsu H; Kawashima N; Wang X; Yoshida K; Wada T; Gunji M; Toma T; Kato T; Shiraishi Y; Iwata A; Hori T; Kitoh T; Chiba K; Tanaka H; Sanada M; Takahashi Y; Nonoyama S; Ito M; Miyano S; Ogawa S; Kojima S; Kanegane H
J Clin Immunol; 2015 Oct; 35(7):610-4. PubMed ID: 26407811
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency.
Lee YW; Yang EA; Kang HJ; Yang X; Mitsuiki N; Ohara O; Miyawaki T; Kanegane H; Lee JH
J Investig Allergol Clin Immunol; 2013; 23(1):65-7. PubMed ID: 23653982
[No Abstract] [Full Text] [Related]
7. A novel IL2RG mutation presenting with atypical T(-)B(+)NK+ phenotype: rapid elucidation of NK cell origin.
Estévez OA; Ortega C; Fernández S; Aguado R; Rumbao J; Perez-Navero J; Santamaría M
Pediatr Blood Cancer; 2014 Jan; 61(1):178-9. PubMed ID: 23940110
[No Abstract] [Full Text] [Related]
8. A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).
Tan W; Yu S; Lei J; Wu B; Wu C
Immunogenetics; 2015 Nov; 67(11-12):629-39. PubMed ID: 26409833
[TBL] [Abstract][Full Text] [Related]
9. Somatic Reversion of a Novel
Hou Y; Gratz HP; Ureña-Bailén G; Gratz PG; Schilbach-Stückle K; Renno T; Güngör D; Mader DA; Malenke E; Antony JS; Handgretinger R; Mezger M
Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052377
[TBL] [Abstract][Full Text] [Related]
10. Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Steininger J; Leiss-Piller A; Geier CB; Rossmanith R; Elfeky R; Bra D; Pichler H; Lawitschka A; Zubarovskaya N; Artacker G; Matthes-Leodolter S; Eibl MM; Wolf HM
Front Immunol; 2021; 12():644687. PubMed ID: 33959125
[TBL] [Abstract][Full Text] [Related]
11. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.
Yamashita M; Wakatsuki R; Kato T; Okano T; Yamanishi S; Mayumi N; Tanaka M; Ogura Y; Kanegane H; Nonoyama S; Imai K; Morio T
Int J Hematol; 2019 May; 109(5):603-611. PubMed ID: 30850927
[TBL] [Abstract][Full Text] [Related]
12. Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA; Grönholm J; Öhman T; Pöysti S; Toivonen R; Kreutzman A; Heiskanen K; Trotta L; Toiviainen-Salo S; Routes JM; Verbsky J; Mustjoki S; Saarela J; Kere J; Varjosalo M; Hänninen A; Seppänen MRJ
J Clin Immunol; 2020 Apr; 40(3):503-514. PubMed ID: 32072341
[TBL] [Abstract][Full Text] [Related]
13. Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
Tuovinen EA; Pöysti S; Hamdan F; Le KM; Keskitalo S; Turunen T; Minier L; Mamia N; Heiskanen K; Varjosalo M; Cerullo V; Kere J; Seppänen MRJ; Hänninen A; Grönholm J
J Clin Immunol; 2023 Feb; 43(2):358-370. PubMed ID: 36260239
[TBL] [Abstract][Full Text] [Related]
14. A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency.
Gray PE; Logan GJ; Alexander IE; Poulton S; Roscioli T; Ziegler J
Int J Immunogenet; 2015 Feb; 42(1):11-4. PubMed ID: 25443657
[TBL] [Abstract][Full Text] [Related]
15. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993.
Noguchi M; Yi H; Rosenblatt HM; Filipovich AH; Adelstein S; Modi WS; McBride OW; Leonard WJ
J Immunol; 2008 Nov; 181(9):5817-27. PubMed ID: 18941169
[No Abstract] [Full Text] [Related]
16. [Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].
Wu QH; Shi HR; Liu N; Jiang M; Lu N; Zhao ZH; Kong XD
Zhonghua Er Ke Za Zhi; 2012 Nov; 50(11):851-4. PubMed ID: 23302618
[TBL] [Abstract][Full Text] [Related]
17. Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.
Kawai T; Saito M; Nishikomori R; Yasumi T; Izawa K; Murakami T; Okamoto S; Mori Y; Nakagawa N; Imai K; Nonoyama S; Wada T; Yachie A; Ohmori K; Nakahata T; Heike T
J Clin Immunol; 2012 Aug; 32(4):690-7. PubMed ID: 22460439
[TBL] [Abstract][Full Text] [Related]
18. Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency.
Wada T; Toma T ; Yasui M; Inoue M; Kawa K; Imai K; Morio T; Yachie A
J Investig Allergol Clin Immunol; 2016; 26(1):63-5. PubMed ID: 27012023
[No Abstract] [Full Text] [Related]
19. Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy.
Okano T; Nishikawa T; Watanabe E; Watanabe T; Takashima T; Yeh TW; Yamashita M; Tanaka-Kubota M; Miyamoto S; Mitsuiki N; Takagi M; Kawano Y; Mochizuki Y; Imai K; Kanegane H; Morio T
Clin Immunol; 2017 Oct; 183():112-120. PubMed ID: 28780374
[TBL] [Abstract][Full Text] [Related]
20. Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing.
Xu S; Li Q; Wu J; Chen G; Zhu B; Gu W
Immunol Invest; 2018 Apr; 47(3):221-228. PubMed ID: 29388853
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]