Rheumatoid arthritis (RA) is a long-term autoimmune disorder that primarily affects joints. It typically results in warm, swollen, and painful joints. Pain and stiffness often worsen following rest. Most commonly, the wrist and hands are involved, with the same joints typically involved on both sides of the body. The disease may also affect other parts of the body, including skin, eyes, lungs, heart, nerves, and blood. This may result in a low red blood cell count, inflammation around the lungs, and inflammation around the heart. Fever and low energy may also be present. Often, symptoms come on gradually over weeks to months.
Sjögren syndrome or Sjögren's syndrome is a long-term autoimmune disease that affects the body's moisture-producing glands, and often seriously affects other organ systems, such as the lungs, kidneys, and nervous system.
Rheumatology is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called rheumatologists.
Ankylosing spondylitis (AS) is a type of arthritis characterized by long-term inflammation of the joints of the spine, typically where the spine joins the pelvis. With AS, eye and bowel problems, and back pain may occur. Joint mobility in the affected areas sometimes worsens over time. Ankylosing spondylitis is believed to involve a combination of genetic and environmental factors. More than 90% of people affected in the UK have a specific human leukocyte antigen known as the HLA-B27 antigen. The underlying mechanism is believed to be autoimmune or autoinflammatory. Diagnosis is based on symptoms with support from medical imaging and blood tests. AS is a type of seronegative spondyloarthropathy, meaning that tests show no presence of rheumatoid factor (RF) antibodies.
Psoriatic arthritis (PsA) is a long-term inflammatory arthritis that occurs in people affected by the autoimmune disease psoriasis. The classic feature of psoriatic arthritis is swelling of entire fingers and toes with a sausage-like appearance. This often happens in association with changes to the nails such as small depressions in the nail (pitting), thickening of the nails, and detachment of the nail from the nailbed. Skin changes consistent with psoriasis frequently occur before the onset of psoriatic arthritis but psoriatic arthritis can precede the rash in 15% of affected individuals. It is classified as a type of seronegative spondyloarthropathy.
HLA class II histocompatibility antigen, DRB1 beta chain is a protein that in humans is encoded by the HLA-DRB1 gene. DRB1 encodes the most prevalent beta subunit of HLA-DR. DRB1 alleles, especially those encoding amino acid sequence changes at positions 11 and 13, are associated risk of rheumatoid arthritis.
Allen Caruthers Steere is an American rheumatologist. He is a professor of rheumatology at Harvard University and previously at Tufts University and Yale University. Steere and his mentor, Stephen Malawista of Yale University, are credited with discovering and naming Lyme disease, and he has published almost 300 scholarly articles on Lyme disease during his more than 40 years of studies of this infection. At a ceremony in Hartford, Connecticut in 1998, Governor John G. Rowland declared September 24 to be "Allen C. Steere Day".
HLA-DR4 (DR4) is an HLA-DR serotype that recognizes the DRB1*04 gene products. The DR4 serogroup is large and has a number of moderate frequency alleles spread over large regions of the world.
HLA-DR1 (DR1) is a HLA-DR serotype that recognizes the DRB1*01 gene products. It has been observed to be common among centenarians.
A rheumatoid nodule is a lump of tissue, or an area of swelling, that appears on the exterior of the skin usually around the olecranon or the interphalangeal joints, but can appear in other areas. There are four different types of rheumatoid nodules: subcutaneous rheumatoid nodules, cardiac nodules, pulmonary nodules, and central nervous systems nodules. These nodules occur almost exclusively in association with rheumatoid arthritis. Very rarely do rheumatoid nodules occur as rheumatoid nodulosis in the absence of rheumatoid arthritis. Rheumatoid nodules can also appear in areas of the body other than the skin. Less commonly they occur in the lining of the lungs or other internal organs. The occurrence of nodules in the lungs of miners exposed to silica dust was known as Caplan’s syndrome. Rarely, the nodules occur at diverse sites on body.
Peter K. Gregersen is a geneticist who heads the Robert S. Boas Center for Genomics and Human Genetics at Northwell's Feinstein Institute for Medical Research in Manhasset, New York, and is a professor of molecular medicine at Hofstra Northwell School of Medicine. He received his MD from Columbia University in 1976.
Expression quantitative trait loci (eQTLs) are genomic loci that explain variation in expression levels of mRNAs.
Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 is a protein that in humans is encoded by the KIR2DS1 gene.
T-cell activation RhoGTPase activating protein is a protein that in humans is encoded by the TAGAP gene.
Gene Relationships Across Implicated Loci(GRAIL) is a free web application developed by Soumya Raychaudhuri at the Broad Institute with the goal of determining the relationships among genes in different disease associated loci through statistical analysis.
Paul-Peter Tak M.D. PhD FMedSci is an immunologist and academic specialising in the fields of internal medicine, rheumatology and immunology. Tak has been the President & CEO of Candel Therapeutics since September 2020.
Eric John Holborow (1918–2009) was a British physician, rheumatologist, and immunologist, known for his pioneering research on autoimmunity.
Lars Klareskog is a Swedish physician, immunologist, and rheumatologist, known for research into the genetics of autoimmune diseases such as rheumatoid arthritis (RA).
Ross E. Petty is a Canadian pediatric rheumatologist. He is a professor emeritus in the Department of Pediatrics at the University of British Columbia and a pediatric rheumatologist at BC Children’s Hospital in Vancouver, Canada. He established Canada’s first formal pediatric rheumatology program at the University of Manitoba in 1976, and three years later, he founded a similar program at the University of British Columbia.
Paul Emery is a British rheumatologist, researcher, and academic. Emery has been the Versus Arthritis Professor of Rheumatology at the University of Leeds since 1995, Head of its Rheumatology Department from 1995 to 2008. He is Head of the Academic Unit of Musculoskeletal Disease and Lead Clinician of Rheumatology at the Leeds Teaching Hospital NHS Trust, and was the Director of the NIHR Leeds Biomedical Research Centre from 2009 to 2022. He is known for introducing early intervention in inflammatory arthritis. Emery played a critical role in bringing sensitive imaging (MRI) into rheumatology practice. In 2012, Emery was awarded the Carol Nachman Prize for Rheumatology, and as of 2024, he has published over 1660 peer-reviewed articles with over 160,000 citations. Emery was the most cited European Rheumatologist in 2010, and was selected in the European Journal of Clinical Investigation's "list of highly influential biomedical researchers, 1996–2011."
