research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
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5 / 25 results research Characterization of Novel TMEM173 Mutation Causing a Lupus- and SAVI-Like Phenotype, Modified by Polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Genome-Wide Association Study of Skin Complex Diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Identification of Biomarkers in Affected Hair Follicles from Chronic Discoid Lupus Erythematosus by Weighted Gene Co-Expression Network Analysis
Key genes linked to immune response are upregulated in hair follicles and skin tissues in chronic discoid lupus erythematosus.
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