Jul 14, 2026 · 44 min · 13 segments
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…
Daniela SchwartzGuest
John HausmannHost
[upbeat music] Welcome back to another episode of ACR On Air, the official podcast of the American College of Rheumatology.
For instance, the child with recurrent fevers who later develops inflammatory bowel disease, the patient with Behcet's who also has lupus, the family where one person has recurrent oral ulcers, another has Crohn's disease, and another has inflammatory arthritis, and somehow none of those diagnoses seem to fully explain what's happening.
For years, we treated these as separate diseases, but increasingly, we're learning that sometimes they're different manifestations of the same underlying genetic disorder.
Today's episode is about one of those disorders, haploinsufficiency of A20 or HA20 as it's sometimes known.
It's a disease that was first described less than a decade ago, but it's already changing how we think about autoinflammation, autoimmunity, and immune dysregulation, and it raises a fascinating question.
How many patients sitting in our clinics today have a genetic diagnosis that we've simply never thought to look for? Joining me today is Dr.
Dr. Schwartz is an assistant professor of medicine in the Division of Rheumatology and Clinical Immunology at the University of Pittsburgh.
She's the founding co-director of both the Pittsburgh Immunogenetics Discovery Center and the UPMC Autoinflammatory Center of Excellence.
She earned her medical degree from Wake Forest University School of Medicine, completed residency and served as chief medical resident at Virginia Commonwealth University.
She really has become one of the leading figures in the study and management of patients with haploinsufficiency of A20.
In this conversation, we discuss how to recognize patients who may have HA20, when genetic testing should enter the differential, how to approach treatment, and why this disease has fundamentally changed the way rheumatologists think about patients with complex immune-mediated conditions.
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[upbeat music] Welcome back to another episode of ACR On Air, the official podcast of the American College of Rheumatology.
For instance, the child with recurrent fevers who later develops inflammatory bowel disease, the patient with Behcet's who also has lupus, the family where one person has recurrent oral ulcers, another has Crohn's disease, and another has inflammatory arthritis, and somehow none of those diagnoses seem to fully explain what's happening.
For years, we treated these as separate diseases, but increasingly, we're learning that sometimes they're different manifestations of the same underlying genetic disorder.
Today's episode is about one of those disorders, haploinsufficiency of A20 or HA20 as it's sometimes known.
It's a disease that was first described less than a decade ago, but it's already changing how we think about autoinflammation, autoimmunity, and immune dysregulation, and it raises a fascinating question.
How many patients sitting in our clinics today have a genetic diagnosis that we've simply never thought to look for? Joining me today is Dr.
Dr. Schwartz is an assistant professor of medicine in the Division of Rheumatology and Clinical Immunology at the University of Pittsburgh.
She's the founding co-director of both the Pittsburgh Immunogenetics Discovery Center and the UPMC Autoinflammatory Center of Excellence.
She earned her medical degree from Wake Forest University School of Medicine, completed residency and served as chief medical resident at Virginia Commonwealth University.
She really has become one of the leading figures in the study and management of patients with haploinsufficiency of A20.
In this conversation, we discuss how to recognize patients who may have HA20, when genetic testing should enter the differential, how to approach treatment, and why this disease has fundamentally changed the way rheumatologists think about patients with complex immune-mediated conditions.