134 related articles for article (PubMed ID: 15615257)
1. Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency.
Jo EK; Kook H; Uchiyama T; Hakozaki I; Kim YO; Song CH; Park JK; Kanegane H; Tsuchiya S; Kumaki S
Int J Hematol; 2004 Nov; 80(4):332-5. PubMed ID: 15615257
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.
Puel A; Ziegler SF; Buckley RH; Leonard WJ
Nat Genet; 1998 Dec; 20(4):394-7. PubMed ID: 9843216
[TBL] [Abstract][Full Text] [Related]
4. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.
Roifman CM; Zhang J; Chitayat D; Sharfe N
Blood; 2000 Oct; 96(8):2803-7. PubMed ID: 11023514
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease.
Puel A; Leonard WJ
Curr Opin Immunol; 2000 Aug; 12(4):468-73. PubMed ID: 10899029
[TBL] [Abstract][Full Text] [Related]
6. Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain.
Mansour R; Bsat YE; Fadel A; El-Orfali Y; Noun D; Tarek N; Kabbara N; Abboud M; Massaad MJ
Front Immunol; 2022; 13():867837. PubMed ID: 35418989
[TBL] [Abstract][Full Text] [Related]
7. A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype.
Ginn SL; Smyth C; Wong M; Bennetts B; Rowe PB; Alexander IE
Hum Mutat; 2004 May; 23(5):522-3. PubMed ID: 15108287
[TBL] [Abstract][Full Text] [Related]
8. Novel Compound Heterozygous Mutations in
Zangari P; Cifaldi C; Di Cesare S; Di Matteo G; Chiriaco M; Amodio D; Cotugno N; De Luca M; Surace C; Ladogana S; Gardini S; Merli P; Algeri M; Rossi P; Palma P; Cancrini C; Finocchi A
Front Immunol; 2019; 10():2471. PubMed ID: 31736942
[TBL] [Abstract][Full Text] [Related]
9. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Butte MJ; Haines C; Bonilla FA; Puck J
Clin Immunol; 2007 Nov; 125(2):159-64. PubMed ID: 17827065
[TBL] [Abstract][Full Text] [Related]
10. A perspective on IL-7Rα deficient T-B+NK+ severe combined immunodeficiency.
Xinghan KF; Harkensee C
Pediatr Infect Dis J; 2015 Mar; 34(3):301-3. PubMed ID: 25191848
[TBL] [Abstract][Full Text] [Related]
11. Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency.
Kumaki S; Ishii N; Minegishi M; Tsuchiya S; Cosman D; Sugamura K; Konno T
Blood; 1999 Jan; 93(2):607-12. PubMed ID: 9885222
[TBL] [Abstract][Full Text] [Related]
12. Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Giliani S; Mori L; de Saint Basile G; Le Deist F; Rodriguez-Perez C; Forino C; Mazzolari E; Dupuis S; Elhasid R; Kessel A; Galambrun C; Gil J; Fischer A; Etzioni A; Notarangelo LD
Immunol Rev; 2005 Feb; 203():110-26. PubMed ID: 15661025
[TBL] [Abstract][Full Text] [Related]
13. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK; Martinez CA; Sorte HS; Forbes LR; Demmler-Harrison GJ; Hanson IC; Pearson NM; Noroski LM; Zaki SR; Bellini WJ; Leduc MS; Yang Y; Eng CM; Patel A; Rodningen OK; Muzny DM; Gibbs RA; Campbell IM; Shaw CA; Baker MW; Zhang V; Lupski JR; Orange JS; Seeborg FO; Stray-Pedersen A
Clin Exp Immunol; 2014 Dec; 178(3):459-69. PubMed ID: 25046553
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation.
Ponda P; Schuval SJ; Kaplan B; Logalbo P; Roberts JL; Bonagura VR
Ann Allergy Asthma Immunol; 2006 Dec; 97(6):755-8. PubMed ID: 17201233
[TBL] [Abstract][Full Text] [Related]
17. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
Engelhardt KR; Xu Y; Grainger A; Germani Batacchi MG; Swan DJ; Willet JD; Abd Hamid IJ; Agyeman P; Barge D; Bibi S; Jenkins L; Flood TJ; Abinun M; Slatter MA; Gennery AR; Cant AJ; Santibanez Koref M; Gilmour K; Hambleton S
J Clin Immunol; 2017 Jan; 37(1):42-50. PubMed ID: 27807805
[TBL] [Abstract][Full Text] [Related]
18. Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl.
Rossberg S; Schwarz K; Meisel C; Holzhauer S; Kühl J; Ebell W; Wahn V; von Bernuth H
Klin Padiatr; 2009; 221(6):339-43. PubMed ID: 19890784
[TBL] [Abstract][Full Text] [Related]
19. A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T; Yang J; Urban TJ; Wang H; Adeli M; Parrott RE; Roberts JL; Goldstein DB; Buckley RH; Zhong XP
Blood; 2014 Sep; 124(13):2046-50. PubMed ID: 25139357
[TBL] [Abstract][Full Text] [Related]
20. Shared gamma(c) subunit within the human interleukin-7 receptor complex. A molecular basis for the pathogenesis of X-linked severe combined immunodeficiency.
Lai SY; Molden J; Goldsmith MA
J Clin Invest; 1997 Jan; 99(2):169-77. PubMed ID: 9005984
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]