Overview
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is an extremely rare genetic disorder that affects the immune system and causes abnormal storage of a starch-like substance called amylopectin (also known as polyglucosan) in the body's tissues. This condition is sometimes referred to by its shorter name or by its association with mutations in the HOIL1 (RBCK1) or HOIL1L-interacting protein (HOIP) genes within the linear ubiquitination assembly complex (LUBAC). The disease typically presents in early childhood with two major problems: first, the body's immune system becomes overactive, causing repeated episodes of inflammation and fever (autoinflammation); and second, the immune system also fails to properly fight off certain bacteria, leading to serious and recurrent pyogenic (pus-forming) bacterial infections. Additionally, patients develop amylopectinosis, which means abnormal glycogen (polyglucosan bodies) builds up in muscles, the heart, and other organs, potentially leading to muscle weakness and heart problems. The combination of autoinflammation, immunodeficiency, and glycogen storage makes this disease particularly complex and challenging to manage. Patients may experience recurrent fevers, skin rashes, joint pain, enlarged liver and spleen, and progressive muscle or heart involvement. Treatment is largely supportive and may include anti-inflammatory medications, antibiotics to prevent and treat infections, and careful monitoring of heart and muscle function. Because the disease is so rare, there is no established cure, and management requires a coordinated team of specialists. Research into this condition is ongoing, and understanding of the disease continues to evolve.
Key symptoms:
Recurrent fevers without infectionSerious bacterial infections that keep coming backMuscle weaknessHeart muscle disease (cardiomyopathy)Enlarged liverEnlarged spleenSkin rashes or soresJoint pain or swellingFailure to thrive or poor growthChronic inflammationAbnormal glycogen buildup in tissuesFatigue and low energySusceptibility to pus-forming infections
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
1 availableTOBRADEX ST
TOBRADEX ST ophthalmic suspension is indicated for steroid-responsive inflammatory ocular conditions for which a corticosteroid is indicated and where superficial bacterial ocular infection or a risk …
TOBRADEX ST ophthalmic suspension is indicated for steroid-responsive inflammatory ocular conditions for which a corticosteroid is indicated and where superficial bacterial ocular infection or a risk of bacterial ocular infection exists.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis at this time.
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Specialists
View all specialists →No specialists are currently listed for Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis.
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 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis.
Community
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Start the conversation →Latest news about Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
1 articlesCaregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic mutation does my child have, and how does it affect the severity of the disease?,What signs of infection should I watch for, and when should I go to the emergency room?,How often should my child's heart function be checked?,Are there any clinical trials or experimental treatments available for this condition?,Would my child benefit from immunoglobulin replacement therapy?,Is bone marrow transplant an option for my child, and what are the risks?,What can we do to support my child's muscle strength and physical development?
Common questions about Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
What is Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis?
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is an extremely rare genetic disorder that affects the immune system and causes abnormal storage of a starch-like substance called amylopectin (also known as polyglucosan) in the body's tissues. This condition is sometimes referred to by its shorter name or by its association with mutations in the HOIL1 (RBCK1) or HOIL1L-interacting protein (HOIP) genes within the linear ubiquitination assembly complex (LUBAC). The disease typically presents in early childhood with two major problems: first, the body's immune syste
How is Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis inherited?
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis typically begin?
Typical onset of Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is infantile. Age of onset can vary across affected individuals.