Vasculitis is a group of chronic inflammatory diseases in which the blood vessel is the target of an immune reaction. They can be secondary to connective tissue disease, idiopathic or due to infection, neoplasm or drugs.1 Primary angiitis of the central nervous system (PACNS) is a rare syndrome characterized by inflammatory cell infiltration and necrosis…
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When Immunodeficiency & Autoimmunity Coexist
When a patient has both primary immune deficiency and autoimmune disease, the combination can lead to life-threatening complications. Here are some insights into the challenges of diagnosing and treating this rare subset of patients…
Genetic Discoveries Pave New Pathways to the Origins of Rheumatic Diseases
New research has provided a never-before-seen view of the genetic activity that may be used to map the polygenic nature of common rheumatic diseases. Two recent studies have employed distinct approaches to identify the non-coding gene variants, digging deep into human genetic data to uncover the mechanism of rheumatic diseases…
Immune Checkpoint Inhibitors & Immune-Related Adverse Events
Immune checkpoint inhibitors (ICIs) are at the forefront of advances in cancer therapy and have shown promising results for progression-free survival. Checkpoint signaling pathways, such as cytotoxic T-lymphocyte antigen 4 (CTLA-4) and programmed cell death protein 1 (PD-1), normally regulate the immune response to promote self-tolerance and prevent tissue damage and inflammation. PD-1 is a…
Looking for Links Between Rheumatoid Arthritis & Gut Bacteria, Mutations
Patients with a specific genetic predisposition for rheumatoid arthritis (RA) may want to take precautions when consuming certain types of meat, dairy and produce grown with cow manure, according to a new study out of the University of Central Florida (UCF) in Orlando. The study, which assessed 100 RA patients, published in the journal Frontiers…
6 Things Endocrinologists Want Rheumatologists to Know
In your daily contact with rheumatology patients, you likely come across several who have type 1 or 2 diabetes. Are you doing all you can to maximize their treatment? Most physicians know about the damaging health effects of uncontrolled diabetes. From vision loss to kidney failure to nerve damage, those with diabetes require regular vigilance…
Translating Genetic Discoveries into Rheumatic Therapies
SAN DIEGO—Will rheumatologists soon be able to use data from genetics and genome-wide association studies to more accurately predict disease and develop new therapies for rheumatic diseases? At a Nov. 5 session at the 2017 ACR/ARHP Annual Meeting, experts shared their views on how to glean this useful knowledge from genomics studies. The cost to develop…
Tocilizumab a “First Choice” for PHID Syndrome
NEW YORK (Reuters Health)—Tocilizumab should be the “first choice” for treatment of the autoinflammatory and cutaneous manifestations of pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome, say clinicians from the U.K. PHID syndrome is an extremely rare autosomal recessive genetic disease caused by mutations in the SLC29A3 gene. Children with the syndrome develop patches…
Genes Connect Parkinson’s Disease to Autoimmune Diseases
A study has identified several common genetic pathways between Parkinson’s disease and autoimmune diseases. Specifically, researchers have used a genome-wide conjunctional analysis to identify 17 novel loci that overlap the conditions…
Parkinson’s, Autoimmune Disorders May Share Genetic Common Ground
NEW YORK (Reuters Health)—Parkinson’s disease and some autoimmune diseases may have genetic risk factors in common, raising the possibility that the immune system may influence Parkinson’s disease pathogenesis, new research suggests. The study, which analyzed data from genome-wide association studies, “showed a considerable genetic overlap between [Parkinson’s disease] and autoimmune diseases, in particular, type 1…
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