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 / 26 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 Short-Term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-Related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
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 The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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