We are analyzing https://link.springer.com/article/10.1007/s10875-015-0147-3.

Title:
Human Disease Phenotypes Associated With Mutations in TREX1 | Journal of Clinical Immunology
Description:
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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Keywords {🔍}

pubmed, article, google, scholar, cas, trex, lupus, syndrome, central, aicardigoutieres, mutations, chilblain, crow, exonuclease, familial, disease, mutation, dna, human, systemic, erythematosus, vasculopathy, med, autoimmune, genet, cerebral, leekirsch, rice, gene, immunol, access, biol, perrino, nat, dominant, research, chem, cell, privacy, cookies, content, journal, clinical, retinal, leukodystrophy, harvey, hum, samhd, hollis, heterozygous,

Topics {✒️}

electronic supplementary material month download article/chapter include aicardi-goutières syndrome rare variants aicardi-goutieres syndrome masquerading aicardi-goutieres syndrome–report interferon-dependent autoimmune disease gene-targeted mice lacking dominant aicardi-goutieres syndrome systemic lupus erythematosus chilblain lupus erythematosus interferon-alpha reveals molecular central nervous system familial chilblain lupus familial chilblain lupus lee-kirsch ma full article pdf astrocytes produce interferon-alpha cutaneous lupus erythematosus stetson db aicardi-goutieres syndrome human disease phenotypes privacy choices/manage cookies van steensel ma severe chilblain lupus clinical immunology aims article journal c-terminal truncations dna degradation activity biomed res int trex1 exonuclease gene state subsidy managed cerebral leukodystrophy access national research agency dna degradation revealed japanese cohort study van den maagdenberg european research council crow yj article rice interferon-related biomarkers mazur dj autosomal dominant inheritance cell biochem biophys interferon-independent activation early hum dev polyarteritis nodosa vasculopathy related subjects autoimmune diseases machine learning

Questions {❓}

Aicardi-goutieres syndrome: a genetic microangiopathy?

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