Human Disease Phenotypes Associated With Mutations in TREX1.

Gillian I Rice; Mathieu P Rodero; Yanick J Crow

doi:10.1007/s10875-015-0147-3

Human Disease Phenotypes Associated With Mutations in TREX1.

Gillian I Rice, Mathieu P Rodero, Yanick J Crow

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Journal of clinical immunology
Volume	35
Issue number	3
DOIs	https://doi.org/10.1007/s10875-015-0147-3
Publication status	Published - Apr 2015

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@article{9021c04593394c888e9cc34fdb3fda75,

title = "Human Disease Phenotypes Associated With Mutations in TREX1.",

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-Gouti{\`e}res syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.",

author = "Rice, {Gillian I} and Rodero, {Mathieu P} and Crow, {Yanick J}",

year = "2015",

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AU - Rice, Gillian I

AU - Rodero, Mathieu P

AU - Crow, Yanick J

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N2 - 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.

AB - 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.

U2 - 10.1007/s10875-015-0147-3

DO - 10.1007/s10875-015-0147-3

M3 - Article

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SN - 1573-2592

VL - 35

JO - Journal of clinical immunology

JF - Journal of clinical immunology

IS - 3

ER -

Human Disease Phenotypes Associated With Mutations in TREX1.

Abstract

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