186 related articles for article (PubMed ID: 20021794)
21. 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]
22. [Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Dou LM; Fang LJ; Wang XH; Lu W; Chen R; Li LT; Zhao J; Wang JS
Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):302-7. PubMed ID: 23927806
[TBL] [Abstract][Full Text] [Related]
23. Increased (6 exon) interleukin-7 production after M. tuberculosis infection and soluble interleukin-7 receptor expression in lung tissue.
Rane L; Rahman S; Magalhaes I; Ahmed R; Spångberg M; Kondova I; Verreck F; Andersson J; Brighenti S; Maeurer MJ
Genes Immun; 2011 Oct; 12(7):513-22. PubMed ID: 21677672
[TBL] [Abstract][Full Text] [Related]
24. [A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
Liu Y; Zou L; Meng Y; Zhang Y; Shi X; Ju J; Yang G; Hu L; Chen X
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):455-9. PubMed ID: 25190167
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
Safaei S; Pourpak Z; Moin M; Houshmand M
Iran J Allergy Asthma Immunol; 2011 Jun; 10(2):129-32. PubMed ID: 21625022
[TBL] [Abstract][Full Text] [Related]
27. Overlapping roles of CXCL13, interleukin 7 receptor alpha, and CCR7 ligands in lymph node development.
Luther SA; Ansel KM; Cyster JG
J Exp Med; 2003 May; 197(9):1191-8. PubMed ID: 12732660
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.
Villa A; Sironi M; Macchi P; Matteucci C; Notarangelo LD; Vezzoni P; Mantovani A
Blood; 1996 Aug; 88(3):817-23. PubMed ID: 8704236
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Ye J; Qiu WJ; Han LS; Zhang HW; Zhou JD; Gao XL; Wang Y; Gu XF
Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Impaired IL-7 signaling may explain a case of atypical JAK3-SCID.
Li J; Nara H; Rahman M; Juliana FM; Araki A; Asao H
Cytokine; 2010 Feb; 49(2):221-8. PubMed ID: 19889552
[TBL] [Abstract][Full Text] [Related]
35. [Study on the association between IL-2R and IL-7R gene polymorphism and idiopathic demyelinating optic neuritis].
Zhao YY; Wei SH; Dai P; Yuan HJ
Zhonghua Yan Ke Za Zhi; 2010 Dec; 46(12):1066-70. PubMed ID: 21211217
[TBL] [Abstract][Full Text] [Related]
36. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
Yeowell HN; Walker LC
Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
[TBL] [Abstract][Full Text] [Related]
37. A transgenic T cell receptor restores thymocyte differentiation in interleukin-7 receptor alpha chain-deficient mice.
Crompton T; Outram SV; Buckland J; Owen MJ
Eur J Immunol; 1997 Jan; 27(1):100-4. PubMed ID: 9022004
[TBL] [Abstract][Full Text] [Related]
38. A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.
Khanolkar A; Wilks JD; Liu G; Simpson BM; Caparelli EA; Kirschmann DA; Bergerson J; Fuleihan RL
Immunol Res; 2020 Feb; 68(1):13-27. PubMed ID: 32215810
[TBL] [Abstract][Full Text] [Related]
39. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
Zhuang TF; Qiu ZQ; Wei M; Huang SZ
Zhonghua Er Ke Za Zhi; 2005 Feb; 43(2):85-8. PubMed ID: 15833157
[TBL] [Abstract][Full Text] [Related]
40. [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]
[Previous] [Next] [New Search]
