Overview
Granulomatous autoinflammatory syndrome of childhood, sometimes called pediatric granulomatous arthritis or Blau syndrome when it runs in families, is a very rare condition where the immune system becomes overactive and causes ongoing inflammation in several parts of the body. The hallmark of this disease is the formation of granulomas — tiny clusters of immune cells that build up in tissues and cause damage. The three main areas affected are the skin (causing a bumpy rash), the joints (causing painful swelling and stiffness called arthritis), and the eyes (causing a type of inflammation called uveitis). Symptoms usually begin in early childhood, often before age 5. The skin rash may appear first as small, tan or reddish bumps. Joint swelling can affect the wrists, knees, ankles, and fingers, sometimes leading to limited movement. Eye inflammation can threaten vision if not treated promptly. Some children may also develop fevers, enlarged lymph nodes, or inflammation in blood vessels or internal organs. Treatment focuses on controlling the overactive immune system using medications that reduce inflammation. While there is no cure, early and consistent treatment can help manage symptoms and prevent serious complications, especially vision loss. The condition is caused by mutations in the NOD2 gene (also known as CARD15), which plays a key role in the body's innate immune response.
Key symptoms:
Bumpy skin rash, often tan or reddish coloredPainful and swollen jointsStiff joints with limited movementEye inflammation (uveitis) that can affect visionRecurring feversEnlarged lymph nodesGranuloma formation in skin, joints, and eyesBoggy or puffy swelling around jointsLight sensitivity and eye rednessFatigue and general feeling of being unwellPossible inflammation of blood vessels (vasculitis)Possible kidney or liver involvement in severe casesCamptodactyly (bent fingers due to joint contractures)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Granulomatous autoinflammatory syndrome of childhood.
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Specialists
View all specialists →No specialists are currently listed for Granulomatous autoinflammatory syndrome of childhood.
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
No travel grants are currently matched to Granulomatous autoinflammatory syndrome of childhood.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's disease, and which organs are currently affected?,What medications do you recommend, and what are the potential side effects?,How often does my child need eye exams to check for uveitis?,What signs should I watch for that would require urgent medical attention?,Are there any activities my child should avoid?,Should other family members be tested for the NOD2 gene mutation?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Granulomatous autoinflammatory syndrome of childhood
What is Granulomatous autoinflammatory syndrome of childhood?
Granulomatous autoinflammatory syndrome of childhood, sometimes called pediatric granulomatous arthritis or Blau syndrome when it runs in families, is a very rare condition where the immune system becomes overactive and causes ongoing inflammation in several parts of the body. The hallmark of this disease is the formation of granulomas — tiny clusters of immune cells that build up in tissues and cause damage. The three main areas affected are the skin (causing a bumpy rash), the joints (causing painful swelling and stiffness called arthritis), and the eyes (causing a type of inflammation calle
How is Granulomatous autoinflammatory syndrome of childhood inherited?
Granulomatous autoinflammatory syndrome of childhood follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Granulomatous autoinflammatory syndrome of childhood typically begin?
Typical onset of Granulomatous autoinflammatory syndrome of childhood is childhood. Age of onset can vary across affected individuals.