Results 14/19 patients were homozygous or compound heterozygous for rare or novel missense mutations in the coding region of CECR1. In 5 patients, we have detected only one likely disease-associated mutation; further analysis is necessary to identify a possible genomic deletion or a second mutation in the non-coding region of CECR1. We have found three rare missense mutations that were not prev...

Coronavirus disease 2019 (COVID-19), which causes severe acute respiratory syndrome, was accepted as a pandemic by the World Health Organization in March 2020. Some of rheumatological diseases develop on basis immune system disorders such autoimmunity and it is known that use immunosuppressive drugs increases risk infection.1, 2 Therefore, early stages COVID-19 outbreak, condition patients rece...

Mammalian telomeres are composed of long tandem arrays of double-stranded telomeric TTAGGG repeats associated with the telomeric DNA-binding proteins, TRF1 and TRF2. TRF1 and TRF2 contain a similar C-terminal Myb domain that mediates sequence-specific binding to telomeric DNA. In the budding yeast, telomeric DNA is associated with scRap1p, which has a central DNA-binding domain that contains tw...

Background: While efficacy of tofacitinib (TOF) has been proven in many adult immune-mediated conditions, the information on its’ safety and pediatric population is limited. Objectives: to evaluate TOF children with diseases. Methods: from 23 whom initiated, 17 treatment duration > 6 months were extracted including 16 girls 1 boy following diagnosis: JIA (n=10), autoinflammatory diseases (AI...