Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases

What this Trial Is About

Researchers are investigating the role of hematopoietic mutations, specifically mosaic loss of the Y chromosome (mLOY), in autoimmune rheumatologic diseases. This study, called AYLo, focuses on understanding how these mutations affect immune system balance, cell functions, and the progression of inflammation-related autoimmune disorders. The goal is to fill knowledge gaps about how these mutations contribute to disease and to develop a framework for disease-specific characterization using clinical, molecular, and imaging data. The study includes groups of male patients over 50 years old newly diagnosed with various autoimmune and respiratory conditions such as giant cell arteritis, polymyalgia rheumatica, ANCA-associated vasculitis, rheumatoid arthritis, sarcoidosis, COPD, and asthma bronchiale, as well as age- and gender-matched healthy controls. Participants will undergo diagnostic tests including single nucleotide polymorphism genotyping, 3'mRNA sequencing, ELISA and Legendplex assays for cytokine levels, flow cytometry for immune cell profiling, laboratory serum chemistry, and routine pulmonary assessments like lung ultrasound and CT scans. Assessments occur at baseline and again 12 months after diagnosis. Participants will provide blood samples and undergo clinical and imaging evaluations to measure the proportion of blood cells with mLOY and changes in immune cell types and cytokine profiles. Researchers will also monitor pulmonary involvement related to these diseases. The primary outcome is quantifying mLOY in hematopoietic cells, with secondary outcomes including immune and cytokine changes and lung involvement. Follow-up occurs twelve months after diagnosis to track disease progression and mutation impact. The total participation duration will cover this baseline and one-year follow-up period.

AYLo - AutoimmunitY and Loss of y