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.
Search
forLearn
0 / 0 results — no results
Research
5 / 92 results 
research Hair Follicle Stem Cell Replication Stress Drives IFI16/STING-Dependent Inflammation in Hidradenitis Suppurativa
Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
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 Exploring Clinical and Imaging Differences in COVID-19: An Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
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.
Community Join
0 / 0 results — no results