Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.

@article{Morgan2011MutationIT,
  title={Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.},
  author={Neil V Morgan and Sarah Goddard and Tony S. Cardno and David McDonald and Fatimah Rahman and Dawn Barge and Andrew Ciupek and Anna Straatman-Iwanowska and Shanaz S Pasha and Mary Guckian and Graham Anderson and Aarnoud Huissoon and Andrew James Cant and Warren P. Tate and Sophie Hambleton and Eamonn R Maher},
  journal={The Journal of clinical investigation},
  year={2011},
  volume={121 2},
  pages={695-702}
}
Inherited immunodeficiency disorders can be caused by mutations in any one of a large number of genes involved in the function of immune cells. Here, we describe two families with an autosomal recessive inherited immunodeficiency disorder characterized by increased susceptibility to infection and autoimmunity. Genetic linkage studies mapped the disorder to chromosomal region 14q11.2, and a homozygous guanine-to-adenine substitution was identified at the last base of exon 3 immediately following… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 7 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 21 extracted citations

Human congenital T-cell receptor disorders

2015
View 6 Excerpts
Highly Influenced

Primary immunodeficiencies associated with eosinophilia.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology • 2016
View 1 Excerpt

Similar Papers

Loading similar papers…