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Article

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2018

Gulati Ashima, Bale Allen E, Dykas Daniel J, Bia Margaret J, Danovitch Gabriel M, Moeckel Gilbert W, Somlo Stefan, Dahl Neera K

Abstract excerpt

Renal thrombotic microangiopathy (TMA) involves diverse causes and clinical presentations. Genetic determinants causing alternate pathway complement dysregulation underlie a substantial proportion of cases. In a significant proportion of TMAs, no defect in complement regulation is identified. Mutations in the major mammalian 3' DNA repair exonuclease 1 (TREX1) have been associated with autoimmune and...

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Source

Identifiers

PMID: 29941221
DOI: 10.1053/j.ajkd.2018.05.006

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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