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 / 31 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 Human Genetic Basis of Coronavirus Disease 2019
Genetic differences affect COVID-19 severity and treatment development.
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