125 related articles for article (PubMed ID: 31024866)
1. Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.
Purswani P; Meehan CA; Kuehn HS; Chang Y; Dasso JF; Meyer AK; Ujhazi B; Csomos K; Lindsay D; Alberdi T; Joychan S; Trotter J; Duff C; Ellison M; Bleesing J; Kumanovics A; Comeau AM; Hale JE; Notarangelo LD; Torgersen TR; Ochs HD; Sriaroon P; Oshrine B; Petrovic A; Rosenzweig SD; Leiding JW; Walter JE
Front Pediatr; 2019; 7():55. PubMed ID: 31024866
[TBL] [Abstract][Full Text] [Related]
2. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID).
Barmettler S; Coffey K; Smith MJ; Chong HJ; Pozos TC; Seroogy CM; Walter J; Abraham RS
J Allergy Clin Immunol Pract; 2021 Feb; 9(2):723-732.e3. PubMed ID: 32818697
[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. Generation of novel Il2rg-knockout mice with clustered regularly interspaced short palindromic repeats (CRISPR) and Cas9.
Byambaa S; Uosaki H; Hara H; Nagao Y; Abe T; Shibata H; Nureki O; Ohmori T; Hanazono Y
Exp Anim; 2020 Apr; 69(2):189-198. PubMed ID: 31801915
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8.
Lim CK; Abolhassani H; Appelberg SK; Sundin M; Hammarström L
Allergy Asthma Clin Immunol; 2019; 15():2. PubMed ID: 30622570
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.
la Marca G; Giocaliere E; Malvagia S; Funghini S; Ombrone D; Della Bona ML; Canessa C; Lippi F; Romano F; Guerrini R; Resti M; Azzari C
J Pharm Biomed Anal; 2014 Jan; 88():201-6. PubMed ID: 24076575
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.
Yu C; Wang Y; Min L
Clin Lab; 2020 Jan; 66(1):. PubMed ID: 32013372
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 9049783
[TBL] [Abstract][Full Text] [Related]
15. Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases.
Jilkina O; Thompson JR; Kwan L; Van Caeseele P; Rockman-Greenberg C; Schroeder ML
Mol Genet Metab Rep; 2014; 1():324-333. PubMed ID: 27896105
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Fuchs S; Rensing-Ehl A; Erlacher M; Vraetz T; Hartjes L; Janda A; Rizzi M; Lorenz MR; Gilmour K; de Saint-Basile G; Roifman CM; Cheuk S; Gennery A; Thrasher AJ; Fuchs I; Schwarz K; Speckmann C; Ehl S
Eur J Immunol; 2014 Oct; 44(10):3129-40. PubMed ID: 25042067
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
Pepper AE; Buckley RH; Small TN; Puck JM
Am J Hum Genet; 1995 Sep; 57(3):564-71. PubMed ID: 7668284
[TBL] [Abstract][Full Text] [Related]
20. Targeted genome editing restores T cell differentiation in a humanized X-SCID pluripotent stem cell disease model.
Alzubi J; Pallant C; Mussolino C; Howe SJ; Thrasher AJ; Cathomen T
Sci Rep; 2017 Sep; 7(1):12475. PubMed ID: 28963568
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
