BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 30850927)

  • 1. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.
    Yamashita M; Wakatsuki R; Kato T; Okano T; Yamanishi S; Mayumi N; Tanaka M; Ogura Y; Kanegane H; Nonoyama S; Imai K; Morio T
    Int J Hematol; 2019 May; 109(5):603-611. PubMed ID: 30850927
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Somatic Reversion of a Novel
    Hou Y; Gratz HP; Ureña-Bailén G; Gratz PG; Schilbach-Stückle K; Renno T; Güngör D; Mader DA; Malenke E; Antony JS; Handgretinger R; Mezger M
    Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052377
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
    Steininger J; Leiss-Piller A; Geier CB; Rossmanith R; Elfeky R; Bra D; Pichler H; Lawitschka A; Zubarovskaya N; Artacker G; Matthes-Leodolter S; Eibl MM; Wolf HM
    Front Immunol; 2021; 12():644687. PubMed ID: 33959125
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Partial T cell defects and expanded CD56
    Cifaldi C; Cotugno N; Di Cesare S; Giliani S; Di Matteo G; Amodio D; Piano Mortari E; Chiriaco M; Buonsenso D; Zangari P; Pagliara D; Gaspari S; Carsetti R; Palma P; Finocchi A; Locatelli F; Rossi P; Doria M; Cancrini C
    J Leukoc Biol; 2020 Aug; 108(2):739-748. PubMed ID: 32392633
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. 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]  

  • 18. Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.
    Khan TA; Iqbal A; Rahman H; Cabral-Marques O; Ishfaq M; Muhammad N
    Microb Pathog; 2017 Aug; 109():114-119. PubMed ID: 28552805
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID.
    Deal C; Thauland TJ; Stiehm ER; Garcia-Lloret MI; Butte MJ
    Front Immunol; 2020; 11():415. PubMed ID: 32265911
    [No Abstract]   [Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 9.