Overview
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is an extremely rare genetic condition that affects the immune system in multiple ways. The disease is caused by mutations that disrupt how the body's immune system works, leading to a combination of problems including chronic inflammation of the digestive tract (inflammatory bowel disease or IBD), joint inflammation (arthritis), and a weakened ability to fight off infections. Because the immune system is not properly regulated, it can both attack the body's own tissues and fail to protect against germs. Patients typically experience ongoing digestive symptoms such as diarrhea, abdominal pain, and poor nutrient absorption from the gut. Joint pain and swelling can affect daily movement and comfort. Recurrent infections — meaning infections that keep coming back — are a hallmark of this condition, because the immune system cannot mount a proper defense. Some patients may also develop other signs of immune dysregulation, such as skin problems or enlarged lymph nodes. Treatment is mainly supportive and aimed at managing each aspect of the disease. This may include medications to control gut inflammation, drugs to suppress the overactive parts of the immune system, antibiotics or other treatments for infections, and anti-inflammatory therapies for arthritis. In some cases, hematopoietic stem cell transplantation (bone marrow transplant) may be considered as a potentially curative option, though this carries significant risks. Early diagnosis and coordinated care from multiple specialists are important for the best possible outcomes.
Key symptoms:
Chronic diarrheaAbdominal pain and crampingBloody stoolsJoint pain and swelling (arthritis)Frequent or recurring infectionsPoor weight gain or failure to thrive in childrenFeverFatigue and low energySkin rashes or soresEnlarged lymph nodesPoor nutrient absorption from foodMouth soresDelayed growth in children
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
No FDA-approved treatments are currently listed for Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome.
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 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome.
Community
No community posts yet. Be the first to share your experience with Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome.
Start the conversation →Latest news about Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
No recent news articles for Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 is causing my child's condition, and does this affect treatment options?,What medications are recommended, and what are their potential side effects?,Is my child a candidate for bone marrow transplant, and what are the risks and benefits?,How can we best prevent infections in daily life?,What dietary changes or nutritional supplements should we consider?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
What is Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome?
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is an extremely rare genetic condition that affects the immune system in multiple ways. The disease is caused by mutations that disrupt how the body's immune system works, leading to a combination of problems including chronic inflammation of the digestive tract (inflammatory bowel disease or IBD), joint inflammation (arthritis), and a weakened ability to fight off infections. Because the immune system is not properly regulated, it can both attack the body's own tissues and fail to protect against germs. P
How is Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inherited?
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome typically begin?
Typical onset of Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is infantile. Age of onset can vary across affected individuals.