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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2015

01-04-2015 | CME REVIEW

Human Disease Phenotypes Associated With Mutations in TREX1

Authors: Gillian I. Rice, Mathieu P. Rodero, Yanick J. Crow

Published in: Journal of Clinical Immunology | Issue 3/2015

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Abstract

Considering that it is a single exon gene encoding a 314 amino acid protein, the genotype-phenotype landscape of TREX1 is remarkably complex. Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.
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Metadata
Title
Human Disease Phenotypes Associated With Mutations in TREX1
Authors
Gillian I. Rice
Mathieu P. Rodero
Yanick J. Crow
Publication date
01-04-2015
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2015
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0147-3

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