Overview
IL21-related infantile inflammatory bowel disease (also sometimes called IL-21 deficiency or IL21-IBD) is a very rare genetic condition that causes severe inflammation in the digestive tract, starting in the first months of life. It is caused by changes (mutations) in the IL21 gene, which normally helps the immune system work properly. When this gene does not work correctly, the immune system attacks the lining of the gut, leading to ongoing inflammation that is very difficult to control with standard treatments. Babies with this condition typically develop symptoms very early in life, often before their first birthday. The gut inflammation causes problems like severe diarrhea, poor weight gain, and belly pain. Because the immune system is also affected more broadly, children may be more vulnerable to certain infections. The condition belongs to a group of diseases called very early onset inflammatory bowel disease (VEO-IBD), which are forms of IBD that appear in infancy and are usually caused by a single gene change. Treatment is very challenging. Standard IBD medicines often do not work well for this condition. The only potentially curative treatment currently known is a bone marrow transplant (also called hematopoietic stem cell transplantation or HSCT), which replaces the faulty immune cells with healthy ones from a donor. Ongoing care from a team of specialists is essential to manage symptoms and support the child's growth and nutrition.
Also known as:
Key symptoms:
Severe, persistent diarrhea starting in infancyBlood or mucus in the stoolPoor weight gain or failure to thriveBelly pain and crampingVomitingSwelling and inflammation throughout the digestive tractMouth sores (oral ulcers)Skin rashes or inflammation around the anusIncreased risk of infectionsLow energy and irritabilityNutritional deficiencies due to poor absorption
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 IL21-related infantile inflammatory bowel disease.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for IL21-related infantile inflammatory bowel disease.
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 IL21-related infantile inflammatory bowel disease.
Community
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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.Has genetic testing confirmed the IL21 mutation in my child, and should other family members be tested?,What treatments will you try first, and how will we know if they are working?,Is my child a candidate for bone marrow transplantation, and when should we start that evaluation?,What nutritional support does my child need right now, and will they need tube feeding?,What signs of infection or worsening should prompt an emergency visit?,Are there any clinical trials or research studies that my child might be eligible for?,Which specialist center has the most experience treating this specific condition, and should we seek a referral there?
Common questions about IL21-related infantile inflammatory bowel disease
What is IL21-related infantile inflammatory bowel disease?
IL21-related infantile inflammatory bowel disease (also sometimes called IL-21 deficiency or IL21-IBD) is a very rare genetic condition that causes severe inflammation in the digestive tract, starting in the first months of life. It is caused by changes (mutations) in the IL21 gene, which normally helps the immune system work properly. When this gene does not work correctly, the immune system attacks the lining of the gut, leading to ongoing inflammation that is very difficult to control with standard treatments. Babies with this condition typically develop symptoms very early in life, often
How is IL21-related infantile inflammatory bowel disease inherited?
IL21-related infantile inflammatory bowel disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does IL21-related infantile inflammatory bowel disease typically begin?
Typical onset of IL21-related infantile inflammatory bowel disease is infantile. Age of onset can vary across affected individuals.