138 related articles for article (PubMed ID: 30903457)
1. Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency.
Illig D; Navratil M; Kelečić J; Conca R; Hojsak I; Jadrešin O; Ćorić M; Vuković J; Rohlfs M; Hollizeck S; Bohne J; Klein C; Kotlarz D
J Clin Immunol; 2019 Feb; 39(2):207-215. PubMed ID: 30903457
[TBL] [Abstract][Full Text] [Related]
2. Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Cagdas D; Mayr D; Baris S; Worley L; Langley DB; Metin A; Aytekin ES; Atan R; Kasap N; Bal SK; Dmytrus J; Heredia RJ; Karasu G; Torun SH; Toyran M; Karakoc-Aydiner E; Christ D; Kuskonmaz B; Uçkan-Çetinkaya D; Uner A; Oberndorfer F; Schiefer AI; Uzel G; Deenick EK; Keller B; Warnatz K; Neven B; Durandy A; Sanal O; Ma CS; Özen A; Stepensky P; Tezcan I; Boztug K; Tangye SG
J Clin Immunol; 2021 Aug; 41(6):1272-1290. PubMed ID: 33929673
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. B-cell memory and primary immune deficiencies: interleukin-21 related defects.
Desjardins M; Mazer BD
Curr Opin Allergy Clin Immunol; 2013 Dec; 13(6):639-45. PubMed ID: 24126614
[TBL] [Abstract][Full Text] [Related]
6. X-linked SCID and other defects of cytokine pathways.
Uribe L; Weinberg KI
Semin Hematol; 1998 Oct; 35(4):299-309. PubMed ID: 9801259
[TBL] [Abstract][Full Text] [Related]
7. IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M; Berglund LJ; Avery DT; Cowan MJ; Gennery AR; Smart J; Peake J; Wong M; Pai SY; Baxi S; Walter JE; Palendira U; Tangye GA; Rice M; Brothers S; Al-Herz W; Oettgen H; Eibel H; Puck JM; Cattaneo F; Ziegler JB; Giliani S; Tangye SG; Notarangelo LD
Blood; 2011 Dec; 118(26):6824-35. PubMed ID: 22039266
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D; Ziętara N; Uzel G; Weidemann T; Braun CJ; Diestelhorst J; Krawitz PM; Robinson PN; Hecht J; Puchałka J; Gertz EM; Schäffer AA; Lawrence MG; Kardava L; Pfeifer D; Baumann U; Pfister ED; Hanson EP; Schambach A; Jacobs R; Kreipe H; Moir S; Milner JD; Schwille P; Mundlos S; Klein C
J Exp Med; 2013 Mar; 210(3):433-43. PubMed ID: 23440042
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. The common gamma chain (gamma c) is a required signaling component of the IL-21 receptor and supports IL-21-induced cell proliferation via JAK3.
Habib T; Senadheera S; Weinberg K; Kaushansky K
Biochemistry; 2002 Jul; 41(27):8725-31. PubMed ID: 12093291
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
Russell SM; Tayebi N; Nakajima H; Riedy MC; Roberts JL; Aman MJ; Migone TS; Noguchi M; Markert ML; Buckley RH; O'Shea JJ; Leonard WJ
Science; 1995 Nov; 270(5237):797-800. PubMed ID: 7481768
[TBL] [Abstract][Full Text] [Related]
16. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.
DiSanto JP; Rieux-Laucat F; Dautry-Varsat A; Fischer A; de Saint Basile G
Proc Natl Acad Sci U S A; 1994 Sep; 91(20):9466-70. PubMed ID: 7937790
[TBL] [Abstract][Full Text] [Related]
17. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor.
Noguchi M; Nakamura Y; Russell SM; Ziegler SF; Tsang M; Cao X; Leonard WJ
Science; 1993 Dec; 262(5141):1877-80. PubMed ID: 8266077
[TBL] [Abstract][Full Text] [Related]
18. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Macchi P; Villa A; Giliani S; Sacco MG; Frattini A; Porta F; Ugazio AG; Johnston JA; Candotti F; O'Shea JJ
Nature; 1995 Sep; 377(6544):65-8. PubMed ID: 7659163
[TBL] [Abstract][Full Text] [Related]
19. An interleukin-2 receptor gamma chain mutation with normal thymus morphology.
Sharfe N; Shahar M; Roifman CM
J Clin Invest; 1997 Dec; 100(12):3036-43. PubMed ID: 9399950
[TBL] [Abstract][Full Text] [Related]
20. Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency.
Stepensky P; Keller B; Abuzaitoun O; Shaag A; Yaacov B; Unger S; Seidl M; Rizzi M; Weintraub M; Elpeleg O; Warnatz K
Haematologica; 2015 Feb; 100(2):e72-6. PubMed ID: 25398835
[No Abstract] [Full Text] [Related]
[Next] [New Search]
