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Review
. 2015 Apr;35(3):235-43.
doi: 10.1007/s10875-015-0147-3. Epub 2015 Mar 4.

Human disease phenotypes associated with mutations in TREX1

Gillian I Rice  1 , Mathieu P Rodero, Yanick J Crow
Affiliations
Review

Human disease phenotypes associated with mutations in TREX1

Gillian I Rice et al. J Clin Immunol. 2015 Apr.

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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