Literature DB >> 9618765

Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway.

F Candotti1, J J O'Shea, A Villa.   

Abstract

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Year:  1998        PMID： 9618765     DOI： 10.1007/bf00792599

Source DB:  PubMed          Journal:  Springer Semin Immunopathol        ISSN： 0344-4325


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  80 in total

1.  Human severe combined immunodeficiency disease: phenotypic and functional characteristics of peripheral B lymphocytes.

Authors:  M L Gougeon; G Drean; F Le Deist; M Dousseau; M Fevrier; A Diu; J Theze; C Griscelli; A Fischer
Journal:  J Immunol       Date:  1990-11-01       Impact factor: 5.422

2.  Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Authors:  J M Puck; A E Pepper; P S Henthorn; F Candotti; J Isakov; T Whitwam; M E Conley; R E Fischer; H M Rosenblatt; T N Small; R H Buckley
Journal:  Blood       Date:  1997-03-15       Impact factor: 22.113

3.  Cloning of the gamma chain of the human IL-2 receptor.

Authors:  T Takeshita; H Asao; K Ohtani; N Ishii; S Kumaki; N Tanaka; H Munakata; M Nakamura; K Sugamura
Journal:  Science       Date:  1992-07-17       Impact factor: 47.728

4.  Crucial role of Jak3 in negative selection of self-reactive T cells.

Authors:  K Saijo; S Y Park; Y Ishida; H Arase; T Saito
Journal:  J Exp Med       Date:  1997-01-20       Impact factor: 14.307

5.  Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.

Authors:  M Noguchi; H Yi; H M Rosenblatt; A H Filipovich; S Adelstein; W S Modi; O W McBride; W J Leonard
Journal:  Cell       Date:  1993-04-09       Impact factor: 41.582

6.  Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells.

Authors:  B A Witthuhn; O Silvennoinen; O Miura; K S Lai; C Cwik; E T Liu; J N Ihle
Journal:  Nature       Date:  1994-07-14       Impact factor: 49.962

7.  Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain.

Authors:  J P DiSanto; W Müller; D Guy-Grand; A Fischer; K Rajewsky
Journal:  Proc Natl Acad Sci U S A       Date:  1995-01-17       Impact factor: 11.205

8.  Growth signal transduction by the human interleukin-2 receptor requires cytoplasmic tyrosines of the beta chain and non-tyrosine residues of the gamma c chain.

Authors:  M A Goldsmith; S Y Lai; W Xu; M C Amaral; E S Kuczek; L J Parent; G B Mills; K L Tarr; G D Longmore; W C Greene
Journal:  J Biol Chem       Date:  1995-09-15       Impact factor: 5.157

9.  Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

Authors:  F C Schmalstieg; W J Leonard; M Noguchi; M Berg; H E Rudloff; R M Denney; S K Dave; E G Brooks; A S Goldman
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

10.  Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice.

Authors:  J J Peschon; P J Morrissey; K H Grabstein; F J Ramsdell; E Maraskovsky; B C Gliniak; L S Park; S F Ziegler; D E Williams; C B Ware; J D Meyer; B L Davison
Journal:  J Exp Med       Date:  1994-11-01       Impact factor: 14.307
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  8 in total

Review 1.  Interleukin-2 signaling and inherited immunodeficiency.

Authors:  N A Cacalano; J A Johnston
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

Review 2.  Genomics of Immune Diseases and New Therapies.

Authors:  Michael Lenardo; Bernice Lo; Carrie L Lucas
Journal:  Annu Rev Immunol       Date:  2015-12-23       Impact factor: 28.527

3.  KinMutBase, a database of human disease-causing protein kinase mutations.

Authors:  K A Stenberg; P T Riikonen; M Vihinen
Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

4.  Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain.

Authors:  N A Cacalano; T S Migone; F Bazan; E P Hanson; M Chen; F Candotti; J J O'Shea; J A Johnston
Journal:  EMBO J       Date:  1999-03-15       Impact factor: 11.598

5.  In vivo impact of JAK3 A573V mutation revealed using zebrafish.

Authors:  Faiza Basheer; Vilasha Bulleeraz; Viet Q T Ngo; Clifford Liongue; Alister C Ward
Journal:  Cell Mol Life Sci       Date:  2022-05-27       Impact factor: 9.207

6.  A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).

Authors:  Weiping Tan; Sifei Yu; Jiaying Lei; Baojing Wu; Changyou Wu
Journal:  Immunogenetics       Date:  2015-09-26       Impact factor: 2.846

Review 7.  Tofacitinab in renal transplantation.

Authors:  Martin S Zand
Journal:  Transplant Rev (Orlando)       Date:  2013-07       Impact factor: 3.943

8.  Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains.

Authors:  M Chen; A Cheng; F Candotti; Y J Zhou; A Hymel; A Fasth; L D Notarangelo; J J O'Shea
Journal:  Mol Cell Biol       Date:  2000-02       Impact factor: 4.272
  8 in total

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