Understanding Haploinsufficiency of A20

September is Rheumatic Disease Awareness Month (RDAM), and today we're sharing the story of Deborah Talbot, an occupational therapist from the Children's Hospital of Philadelphia and her daughter, Molly, who was diagnosed with Juvenile Idiopathic Arthritis (JIA) at the age of 12 years old. When an ankle injury turned out to be far more, Molly endured months of pain, swelling, repeated evaluations and the uncertainty of not understanding why she wasn't getting better. This is the story of how a family came together to fight through pain, discover a disease, find remission that would remain for years and start advocacy for those without the resources they were blessed with, emerging triumphant in the face of overwhelming adversity 

Rheumatoid arthritis may begin years before the first swollen joint appears, with autoantibodies circulating long before a clinical diagnosis is made. In this episode, we explore what happens during this critical preclinical phase and whether RA can be prevented before it starts. Dr. Kevin Dean, director of the Autoimmune Disease Prevention Center at the University of Colorado Anschutz, joins us to discuss what a positive CCP antibody really means, where RA may originate, lessons from the STOP-RA trial, whether we should screen people at risk, and how clinicians should counsel patients who test positive for CCP antibodies. 

The new clinical guidelines for juvenile and adult axial spondyloarthritis (axSpA), developed collaboratively by the American College of Rheumatology (ACR), the Spondylitis Association of America (SAA), and the Spondyloarthritis Research and Treatment Network (SPARTAN), mark an important evolution in the management of this complex disease. In this episode, Drs. Liron Caplan and Matthew Stoll discuss what's changed, why it matters, and how these recommendations can guide everyday clinical practice—from the first-ever juvenile axSpA guideline and the unified approach to radiographic and non-radiographic disease, to practical decisions around MRI use, first-line therapies, biologic selection, treatment failure, and physical activity.  2026 Update of the American College of Rheumatology/Spondylitis Association of America/Spondyloarthritis Research and Treatment Network Recommendations for the Treatment of Axial Spondyloarthritis in Adults and Children/Adolescents  

In this episode, Dr. Randy Q. Cron discusses hyperinflammation and Macrophage Activation Syndrome (MAS), one of the most serious complications of Still's disease. Because MAS can mimic infection, sepsis, malignancy, or a disease flare, early recognition is critical—and treatment often must begin before every diagnostic criterion is met. We explore the clinical patterns and laboratory findings that matter most, how to interpret ferritin, and how to make timely decisions when multiple diagnoses may exist at once. 

What if some patients who never quite fit their diagnosis actually have an underlying genetic disorder? In this episode, we explore Haploinsufficiency of A20 (HA20), a condition first described less than a decade ago that is already reshaping our understanding of autoinflammation, autoimmunity, and immune dysregulation. How many patients in our clinics have a genetic diagnosis we've never thought to consider? Join us as we discuss this emerging disease and its clinical implications with Dr. Daniella M. Schwartz. 

Could chronic inflammatory calcium pyrophosphate deposition disease (CPPD) be hiding in plain sight? In this episode, we explore why CPPD may be far more common than previously recognized, how it can masquerade as conditions such as refractory inflammatory arthritis, polymyalgia rheumatica, and erosive osteoarthritis, and why it is so often overlooked in clinical practice. We discuss the growing role of musculoskeletal ultrasound in diagnosis and disease management, the structural damage associated with chronic CPPD, and where the field may be headed as researchers pursue more effective treatment strategies. 

The 2026 ACR Guidelines for Juvenile Idiopathic Arthritis (JIA) are here, and lead author Dr. Karen Onel joins us to unpack the key updates shaping pediatric rheumatology care. From a biologics-first approach in systemic JIA to more individualized treatment pathways for non-systemic disease, the new recommendations emphasize earlier intervention, faster treatment tailoring, and risk-based decision-making. Dr. Onel also discusses the guidelines' broader focus on mental health, physical activity, rehabilitation, and the challenges of growing up with a chronic illness. More than an update to treatment algorithms, these guidelines reflect a fundamental shift in philosophy—one that puts the whole child, not just the diagnosis, at the center of care. 

In the future, can autoimmune disease become curable? A groundbreaking study from Germany suggests there may be a pathway in some cases. Patients with severe, treatment-refractory lupus who received CD19 CAR-T cell therapy have remained in drug-free remission for up to five years without ongoing immunosuppression. In this episode, we discuss how these findings are shifting the conversation from disease control to the possibility of cure, and what they could mean for lupus, inflammatory myopathies, systemic sclerosis, vasculitis, rheumatoid arthritis, and autoimmune diseases more broadly. We also explore CAR-T therapy, immune resets, regulatory T cells, relapse risk, and the future of rheumatology with Dr. Georg Schett. 

Fifty years ago, pediatric rheumatic disease was often marked by disability, limited treatment options, and low expectations for long-term outcomes. In 1976, a small group of clinicians and scientists helped launch a new understanding of immune-mediated disease in children and laid the foundation for modern pediatric rheumatology. In this episode, we explore how the field evolved from managing chronic disability to expecting remission, transforming both treatment and quality of life for children. We also examine the scientific breakthroughs, models of care, and remaining challenges that continue to shape the future of pediatric rheumatology. 

Today, we discuss a new guidance statement from the American College of Rheumatology aimed at bringing much-needed structure to the evaluation and management of patients with VEXAS. This episode breaks down key recommendations, including who should be tested, the best approaches to diagnostic evaluation, how to interpret bone marrow findings, and emerging strategies for treatment—offering clarity in a diagnosis that, until recently, was marked by uncertainty.