Literature DB >> 8522327

Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency.

Y Minegishi1, N Ishii, H Maeda, S Takagi, M Tsuchida, H Okawa, K Sugamura, J Yata.   

Abstract

Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.

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Year:  1995        PMID： 8522327     DOI： 10.1007/bf00210299

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

Authors:  N Ishii; H Asao; Y Kimura; T Takeshita; M Nakamura; S Tsuchiya; T Konno; M Maeda; T Uchiyama; K Sugamura
Journal:  J Immunol       Date:  1994-08-01       Impact factor: 5.422

Review 2.  Severe combined immunodeficiencies.

Authors:  A Fischer
Journal:  Immunodefic Rev       Date:  1992

3.  Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

Authors:  J P DiSanto; A Dautry-Varsat; S Certain; A Fischer; G de Saint Basile
Journal:  Eur J Immunol       Date:  1994-02       Impact factor: 5.532

4.  Reconstitution of functional interleukin 2 receptor complexes on fibroblastoid cells: involvement of the cytoplasmic domain of the gamma chain in two distinct signaling pathways.

Authors:  H Asao; T Takeshita; N Ishii; S Kumaki; M Nakamura; K Sugamura
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

5.  The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

Authors:  J M Puck; S M Deschênes; J C Porter; A S Dutra; C J Brown; H F Willard; P S Henthorn
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

6.  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

7.  Phenotypical and functional heterogeneity of the large granular lymphocytes increased after various treatments in a patient with combined immunodeficiency.

Authors:  S Takagi; J Minakuchi; H Okawa; J Yata
Journal:  J Clin Immunol       Date:  1989-01       Impact factor: 8.317

8.  Preferential utilization of the immature JH segment and absence of somatic mutation in the CDR3 junction of the Ig H chain gene in three X-linked severe combined immunodeficiency patients.

Authors:  Y Minegishi; H Okawa; K Sugamura; J Yata
Journal:  Int Immunol       Date:  1994-11       Impact factor: 4.823
  8 in total

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