BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 32215810)

  • 1. 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]  

  • 2. 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]  

  • 3. Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
    Goldberg L; Simon AJ; Lev A; Barel O; Stauber T; Kunik V; Rechavi G; Somech R
    Genes Immun; 2020 Nov; 21(5):326-334. PubMed ID: 32921793
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole-exome sequencing of T
    El Hawary R; Meshaal S; Mauracher AA; Opitz L; Abd Elaziz D; Lotfy S; Eldash A; Boutros J; Galal N; Pachlopnik Schmid J; Elmarsafy A
    Clin Exp Immunol; 2021 Mar; 203(3):448-457. PubMed ID: 33040328
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
    Tsilifis C; Spegarova JS; Good R; Griffin H; Engelhardt KR; Graham S; Hughes S; Arkwright PD; Hambleton S; Gennery AR
    J Clin Immunol; 2024 Apr; 44(4):98. PubMed ID: 38598033
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
    Roberts JL; Lengi A; Brown SM; Chen M; Zhou YJ; O'Shea JJ; Buckley RH
    Blood; 2004 Mar; 103(6):2009-18. PubMed ID: 14615376
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.
    Gilmour KC; Cranston T; Loughlin S; Gwyther J; Lester T; Espanol T; Hernandez M; Savoldi G; Davies EG; Abinun M; Kinnon C; Jones A; Gaspar HB
    Br J Haematol; 2001 Mar; 112(3):671-6. PubMed ID: 11260071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3.
    Ban SA; Salzer E; Eibl MM; Linder A; Geier CB; Santos-Valente E; Garncarz W; Lion T; Ott R; Seelbach C; Boztug K; Wolf HM
    J Clin Immunol; 2014 Nov; 34(8):941-53. PubMed ID: 25205547
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
    Sato T; Okano T; Tanaka-Kubota M; Kimura S; Miyamoto S; Ono S; Yamashita M; Mitsuiki N; Takagi M; Imai K; Kajiwara M; Ebato T; Ogata S; Oda H; Ohara O; Kanegane H; Morio T
    Pediatr Int; 2016 Oct; 58(10):1076-1080. PubMed ID: 27593409
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
    Brugnoni D; Notarangelo LD; Sottini A; Airò P; Pennacchio M; Mazzolari E; Signorini S; Candotti F; Villa A; Mella P; Vezzoni P; Cattaneo R; Ugazio AG; Imberti L
    Blood; 1998 Feb; 91(3):949-55. PubMed ID: 9446656
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
    Ursini MV; Gaetaniello L; Ambrosio R; Matrecano E; Apicella AJ; Salerno MC; Pignata C
    Clin Exp Immunol; 2002 Sep; 129(3):502-9. PubMed ID: 12197892
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.
    Stepensky P; Keller B; Shamriz O; NaserEddin A; Rumman N; Weintraub M; Warnatz K; Elpeleg O; Barak Y
    Clin Immunol; 2016 Feb; 163():91-5. PubMed ID: 26769277
    [TBL] [Abstract][Full Text] [Related]  

  • 17. B-cell differentiation and IL-21 response in
    Miggelbrink AM; Logan BR; Buckley RH; Parrott RE; Dvorak CC; Kapoor N; Abdel-Azim H; Prockop SE; Shyr D; Decaluwe H; Hanson IC; Gillio A; Dávila Saldaña BJ; Eibel H; Hopkins G; Walter JE; Whangbo JS; Kohn DB; Puck JM; Cowan MJ; Griffith LM; Haddad E; O'Reilly RJ; Notarangelo LD; Pai SY
    Blood; 2018 Jun; 131(26):2967-2977. PubMed ID: 29728406
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
    Lee PP; Chan KW; Chen TX; Jiang LP; Wang XC; Zeng HS; Chen XY; Liew WK; Chen J; Chu KM; Chan LL; Shek L; Lee AC; Yu HH; Li Q; Xu CG; Sultan-Ugdoracion G; Latiff ZA; Latiff AH; Jirapongsananuruk O; Ho MH; Lee TL; Yang XQ; Lau YL
    J Clin Immunol; 2011 Apr; 31(2):281-96. PubMed ID: 21184155
    [TBL] [Abstract][Full Text] [Related]  

  • 19. JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.
    Di Matteo G; Chiriaco M; Scarselli A; Cifaldi C; Livadiotti S; Di Cesare S; Ferradini V; Aiuti A; Rossi P; Finocchi A; Cancrini C
    Mol Genet Genomic Med; 2018 Sep; 6(5):713-721. PubMed ID: 30032486
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
    Notarangelo LD; Giliani S; Mazza C; Mella P; Savoldi G; Rodriguez-Pérez C; Mazzolari E; Fiorini M; Duse M; Plebani A; Ugazio AG; Vihinen M; Candotti F; Schumacher RF
    Immunol Rev; 2000 Dec; 178():39-48. PubMed ID: 11213805
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.