93 related articles for article (PubMed ID: 27012023)
1. 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]
2. 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]
3. The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A; Garcia-Prat M; Magallón-Lorenz M; Martín-Nalda A; Drechsel O; Ossowski S; Alonso L; Rivière JG; Soler-Palacín P; Colobran R; Sayós J; Martínez-Gallo M; Franco-Jarava C
Clin Exp Immunol; 2020 Apr; 200(1):61-72. PubMed ID: 31799703
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.
Wada T; Yasui M; Toma T; Nakayama Y; Nishida M; Shimizu M; Okajima M; Kasahara Y; Koizumi S; Inoue M; Kawa K; Yachie A
Blood; 2008 Sep; 112(5):1872-5. PubMed ID: 18559672
[TBL] [Abstract][Full Text] [Related]
6. Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B; Lamara Mahammed L; Mohand Oussaid A; Migaud M; Khadri Y; Casanova JL; Puel A; Ben Halla N; Djidjik R
Front Immunol; 2021; 12():696350. PubMed ID: 34248995
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus.
Kashiwagi Y; Kawashima H; Kato N; Takekuma K; Hoshika A; Kumaki S
Tohoku J Exp Med; 2009 May; 218(1):1-3. PubMed ID: 19398866
[TBL] [Abstract][Full Text] [Related]
12. Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.
Michos A; Tzanoudaki M; Villa A; Giliani S; Chrousos G; Kanariou M
J Clin Immunol; 2011 Oct; 31(5):778-83. PubMed ID: 21732012
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.
Neves JF; Martins C; Cordeiro AI; Neves C; Plagnol V; Curtis J; Fabre M; Bibi S; Borrego LM; Moshous D; Nejentsev S; Gilmour K
J Pediatr Hematol Oncol; 2019 May; 41(4):328-333. PubMed ID: 29939941
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. [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]
19. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Speckmann C; Pannicke U; Wiech E; Schwarz K; Fisch P; Friedrich W; Niehues T; Gilmour K; Buiting K; Schlesier M; Eibel H; Rohr J; Superti-Furga A; Gross-Wieltsch U; Ehl S
Blood; 2008 Nov; 112(10):4090-7. PubMed ID: 18728247
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]