National Institute of Arthritis and Musculoskeletal and Skin Diseases

Exploration of the genetic architecture of ANCA-associated vasculitis

Background Antineutrophil cytoplasmic antibody-associated vasculitis (AAV) is a complex autoimmune disease with distinct clinical and serological subtypes. Previous genome-wide association studies (GWAS) have identified several susceptibility loci, particularly within the major h...

MATRIN3 deficiency in human cells triggers an autoinflammatory response via cGAS–STING activation

MATRIN3 (MATR3) is a broadly expressed nuclear RNA-binding protein. However, the mechanisms by which MATR3 maintains human cellular health remain poorly understood. In this study, we employed gene editing to model MATR3 deficiency in human induced pluripotent stem cells (iPSCs) a...

Comparative Effectiveness of Tocilizumab and Tumor Necrosis Factor Inhibitors in Takayasu Arteritis: Age‐Related Differences in Treatment Response

OBJECTIVE: Comparative, prospective data on biologics for Takayasu arteritis (TAK) are limited. We compared tumor necrosis factor inhibitors (TNFi) and tocilizumab (TCZ) in a combined cohort, assessed demographic and cytokine influences, and evaluated longitudinal outcomes. METHO...

HLA-B*27-associated arthritis across the ages – bridging the gap

HLA-B*27-associated arthritis comprises a number of different forms of inflammatory arthritis with a common phenotype, encompassed by the term spondyloarthritis. The clinical features and outcomes differ across the age spectrum which has resulted in different classification syste...

Examining the Interchangeability of Two Different Patient‐Reported Global Assessment Measures in an Observational Axial Spondyloarthritis Cohort

OBJECTIVE: The goal of this study was to determine if patient global assessment (PGA) scores reported by patients with axial spondyloarthritis (AxSpA) prior to the development of the ASDAS can be used as a substitute for the global item of the ASDAS formula. METHODS: Data from th...

An autoinflammatory CDC42 variant M45L demonstrates the mechanism of pyrin inflammasome activation

CDC42 is an evolutionarily conserved guanosine triphosphatase (GTPase) regulating critical cellular and immune processes. Variants in CDC42 therefore cause a spectrum of developmental phenotypes, including hematological and immunological symptoms. Here, we identify a previously u...