[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant].

Introduction: Fabry disease (FD, #OMIM 301 500) is an X-linked lysosomal disorder. Prior to the 2000s, it was considered a male-only disease. The emergence of two intravenous enzymotherapies (2001) and then of an oral chaperone molecule (2016) brought this rare disease into the spotlight.

Serum interferon-beta level determined by an ultrasensitive electrochemiluminescence immunoassay is increased in clinically active and inactive systemic lupus erythematosus.

Type I interferons, which play an important role in the pathogenesis of various autoimmune diseases such as systemic lupus erythematosus (SLE), are expressed at very low levels under physiological conditions. In this study, we focused on IFN-beta (IFN) β-for its potential use as a biomarker of SLE activity and compared three different technologies for its quantification in the serum of healthy donors and patients with SLE. A total of 93 serum samples from healthy donors and 463 serum samples from lupus patients were tested using either ELISA, digital ELISA based on Single Molecule Array (Simoa®) technology, or a novel ultrasensitive immunoassay (S-Plex®) based on electrochemiluminescence.

Lower disease activity but higher risk of severe COVID-19 and herpes zoster in patients with systemic lupus erythematosus with pre-existing autoantibodies neutralising IFN-α.

Objectives: Type-I interferons (IFNs-I) have potent antiviral effects. IFNs-I are also overproduced in patients with systemic lupus erythematosus (SLE). Autoantibodies (AAbs) neutralising IFN-α, IFN-β and/or IFN-ω subtypes are strong determinants of hypoxemic COVID-19 pneumonia, but their impact on inflammation remains unknown.