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-Reference-Cited by-同舟云学术

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

Published:2014-11-28 Issue:1 Volume:42 Page:11-14
ISSN:1744-3121
Container-title:International Journal of Immunogenetics
language:en
Short-container-title:Int J Immunogenet

Author:

Gray P. E. A.¹²,Logan G. J.³,Alexander I. E.³⁴,Poulton S.⁵,Roscioli T.²⁶,Ziegler J.¹²

Affiliation:

1. Immunology and Infectious Diseases; Sydney Children's Hospital; Sydney NSW Australia

2. School of Women's and Children's Health; University of New South Wales; Sydney NSW Australia

3. Gene Therapy Research Unit; Children's Medical Research Institute and Children's Hospital at Westmead; Sydney NSW Australia

4. University of Sydney Discipline of Paediatrics and Child Health; Westmead NSW Australia

5. Immunology Department; Royal Children's Hospital; Melbourne Vic. Australia

6. Genetics Laboratory; SEALS; Sydney NSW Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine,Immunology

Reference4 articles.

1. Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization;Mella;Clinical Immunology,2000

2. IL2RGbase: a database of gamma c-chain defects causing human X-SCID;Puck;Immunology Today,1996

3. An interleukin-2 receptor gamma chain mutation with normal thymus morphology;Sharfe;The Journal of Clinical Investigation,1997

4. Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests;Somech;Journal of Pediatrics,2005

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