Overview
Infantile onset panniculitis with uveitis and systemic granulomatosis, also known as Blau syndrome or early-onset sarcoidosis when sporadic, is a rare autoinflammatory disorder that typically presents in infancy or early childhood. This condition is characterized by a clinical triad of granulomatous inflammation affecting the skin (panniculitis), eyes (uveitis), and joints (polyarthritis). It is caused by gain-of-function mutations in the NOD2 (CARD15) gene, which plays a key role in innate immune signaling. The familial form is known as Blau syndrome, while sporadic cases are referred to as early-onset sarcoidosis. The disease affects multiple body systems. Skin involvement manifests as a granulomatous rash or panniculitis, often appearing as tan-colored or reddish papules. Ocular disease presents as chronic uveitis (inflammation of the middle layer of the eye), which can lead to vision loss if untreated. Joint involvement typically presents as a boggy, symmetric polyarthritis with prominent synovial cysts and tenosynovitis, which can cause significant functional impairment. Some patients may also develop granulomatous inflammation in other organs, including the kidneys, liver, lungs, and blood vessels (vasculitis), leading to systemic granulomatosis. Treatment is primarily aimed at controlling inflammation and preventing organ damage. Corticosteroids are commonly used as first-line therapy, though long-term use carries significant side effects. Immunosuppressive agents such as methotrexate, mycophenolate mofetil, and biologic therapies including TNF-alpha inhibitors (infliximab, adalimumab) and IL-1 receptor antagonists (anakinra) have been used with variable success. Early and aggressive treatment of uveitis is critical to preserve vision. Prognosis varies, but many patients experience a chronic relapsing course requiring long-term immunomodulatory therapy.
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile onset panniculitis with uveitis and systemic granulomatosis.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Common questions about Infantile onset panniculitis with uveitis and systemic granulomatosis
What is Infantile onset panniculitis with uveitis and systemic granulomatosis?
Infantile onset panniculitis with uveitis and systemic granulomatosis, also known as Blau syndrome or early-onset sarcoidosis when sporadic, is a rare autoinflammatory disorder that typically presents in infancy or early childhood. This condition is characterized by a clinical triad of granulomatous inflammation affecting the skin (panniculitis), eyes (uveitis), and joints (polyarthritis). It is caused by gain-of-function mutations in the NOD2 (CARD15) gene, which plays a key role in innate immune signaling. The familial form is known as Blau syndrome, while sporadic cases are referred to as e
How is Infantile onset panniculitis with uveitis and systemic granulomatosis inherited?
Infantile onset panniculitis with uveitis and systemic granulomatosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile onset panniculitis with uveitis and systemic granulomatosis typically begin?
Typical onset of Infantile onset panniculitis with uveitis and systemic granulomatosis is infantile. Age of onset can vary across affected individuals.