Rare Autoimmune Diseases
An Introduction to Rare Autoimmune Diseases
Rare autoimmune diseases are a heterogeneous group of conditions that are challenging for both clinician and patient as they are difficult to diagnose and there is a lack of knowledge of individual conditions. Many such conditions exist; some of the most well characterised include eosinophilic granulomatosis with polyangiitis, Guillain-Barre syndrome, Kawasaki disease, mixed connective tissue disease, myasthenia gravis, myositis, paroxysmal nocturnal haemoglobinuria, POEMS syndrome, retroperitoneal fibrosis, scleroderma and thyroid eye disease. A further challenge is the lack of approved therapies. Advances in understanding of the molecular, immunological and genetic basis of autoimmune diseases has elucidated novel therapeutic approaches, but many knowledge gaps remain.
Expert video highlights and insights from the conference hub and comprehensive peer-reviewed articles from our journal portfolio provide updates on the changing treatment landscape. To learn more about how the latest developments impact on patient outcomes view our expert-led learning activities.
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Idiopathic inflammatory myopathy (IIM) is a rare autoimmune disease associated with significant morbidity and limited treatment options, highlighting the need for novel therapeutic approaches. The ALKIVIA and ALKIVIA+ trials investigated efgartigimod, a neonatal Fc receptor (FcRn) antagonist, in adults with active IIM. In this interview, conducted at EULAR 2026, Dr Hector Chinoy (Salford Royal Hospital, Salford, UK) discusses the rationale for targeting FcRn, reviews the efficacy and safety findings from the studies, and considers their potential implications for the future management of IIM.
Recent regulatory developments highlight a steady acceleration in therapeutic progress across rare immunological diseases, spanning autoimmune, autoinflammatory and primary immunodeficiency disorders. While individually rare, these conditions collectively represent a growing area of focus, with advances increasingly driven by targeted modulation of specific immune pathways. A series of recent approvals and designations across major regulatory regions underscores both the clinical need and the expanding therapeutic toolkit in this space.
The landscape of rheumatic and musculoskeletal disease research continues to evolve at pace, driven by scientific innovation, interdisciplinary collaboration and an increasing appreciation of the heterogeneity and complexity of the conditions we treat. As we welcome readers to touchREVIEWS in ...
In 2025, major advances have taken place across the field of immunology, from precision immunomodulation to cell, gene and AI-driven therapies that are reshaping clinical practice. We asked five members of the 2025 touchIMMUNOLOGY Future Leaders to highlight the developments they believe have been most impactful this year.
In this episode of Visionary Voices, we welcome Associate Professor Grace Vincent from CQUniversity’s Appleton Institute. A leading expert on sleep and shift work, Grace explores how disrupted sleep affects physician health in both the short and long term, as well as its impact on safety and performance. We also discuss what this means for patient outcomes and share practical strategies to manage sleep loss.
This narrative article aims to inspire confidence and courage to initiate the incremental process of developing myositis or other RD clinics.
As touchIMMUNOLOGY approaches 20 years of providing education for busy immunologists, we are looking to the future—and it certainly looks bright!
Physician burnout is at a critical point. In this episode, Nicky speaks with Dr Alfred Atanda about why so many physicians are burning out and what can be done to change the trend. From personal experience to system-wide solutions, Dr Atanda shares valuable insights on improving physician well-being and building a more effective healthcare culture.
What if your medical degree could launch more than a clinical career? In this candid and compelling read, Dr Jon Edelson shares his lessons for early-career doctors ready to think beyond the bedside and explore the business of medicine.
In this episode, we explore the future of continuing medical education (CME) with the team behind touchIME. Hannah Fisher and Matthew Goodwin share insights into global and US trends, the importance of patient inclusivity and how educational outcomes are evolving to better measure the direct impact of learning on clinical practice and patient care.
Medics4RareDiseases is evolving. We are excited to announce a refresh of our strategy, a relaunch of our branding and even a new name! The charity has grown beyond our highest expectations over the last five years. With this in ...
Recent advancements made in understanding the pathology of inflammatory skin conditions have enabled JAK inhibitors, initially developed for haematology over 20 years ago, to be investigated for dermatological use. In this episode, Dr William (Bill) Damsky discusses JAK inhibitors’ journey from proof-of-concept to treating a wide range of skin conditions, their future impact on rare diseases and the debate around safety.
IgG4-RD is a rare, chronic, relapsing condition characterized by fibroinflammatory lesions rich in CD19+ B cells, which can damage multiple organ systems and lead to organ failure.1 With no approved therapies, glucocorticoids are the primary treatment, but their long-term use is associated with adverse effects and inadequate disease control.1
Our society partner, NORD (The National Organization for Rare Disorder) has planned several initiatives to support this year’s Rare Disease Day on 28 February. These activities are aimed at raising awareness about rare diseases and the challenges faced by people ...
Rare diseases can present numerous challenges for those living with these conditions and the healthcare professionals caring for them. In this interview we discuss some of these with Lisa Sarfaty, VP of Communication and Engagement for NORD (The National Organization ...
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