Overview
Combined immunodeficiency due to IL21R deficiency is a very rare inherited disorder of the immune system. It is caused by mutations in the IL21R gene, which provides instructions for making the interleukin-21 receptor. This receptor plays an important role in how immune cells communicate and function, especially B cells, T cells, and natural killer (NK) cells. When this receptor does not work properly, the body cannot fight infections effectively. Children with this condition typically develop recurrent and severe infections starting in early childhood. These infections often involve the lungs (pneumonia), gut (chronic diarrhea), skin, and other organs. Patients may also have trouble producing enough protective antibodies (immunoglobulins), which are proteins the body uses to fight germs. Some patients develop liver disease, including a condition called cryptosporidium-related liver disease, because the body cannot clear certain parasites. Treatment focuses on preventing and managing infections, often with long-term antibiotics and immunoglobulin replacement therapy (regular infusions of antibodies). In some cases, hematopoietic stem cell transplantation (bone marrow transplant) may be considered as a potentially curative option. Early diagnosis and management are critical to improving outcomes.
Also known as:
Key symptoms:
Frequent and severe lung infections (pneumonia)Chronic diarrheaRecurrent ear infectionsRecurrent skin infectionsPoor weight gain and failure to thriveLiver diseaseChronic infections with unusual organisms like CryptosporidiumLow levels of antibodies in the bloodEnlarged liver or spleenRecurrent feversSlow growthSusceptibility to opportunistic infections
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
1 availableRebyota
REBYOTA is indicated for the prevention of recurrence of Clostridioides difficile infection (CDI) in individuals 18 years of age and older following antibiotic treatment for recurrent CDI.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined immunodeficiency due to IL21R deficiency at this time.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to IL21R deficiency.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Combined immunodeficiency due to IL21R deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.How severe is my child's immune deficiency, and which parts of the immune system are most affected?,Will my child need immunoglobulin replacement therapy, and how often will infusions be needed?,Is a bone marrow transplant recommended for my child, and what are the risks and benefits?,What infections should we be most concerned about, and how can we prevent them?,Are there any vaccines my child should avoid or specifically receive?,Should other family members be tested for carrier status?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Combined immunodeficiency due to IL21R deficiency
What is Combined immunodeficiency due to IL21R deficiency?
Combined immunodeficiency due to IL21R deficiency is a very rare inherited disorder of the immune system. It is caused by mutations in the IL21R gene, which provides instructions for making the interleukin-21 receptor. This receptor plays an important role in how immune cells communicate and function, especially B cells, T cells, and natural killer (NK) cells. When this receptor does not work properly, the body cannot fight infections effectively. Children with this condition typically develop recurrent and severe infections starting in early childhood. These infections often involve the lung
How is Combined immunodeficiency due to IL21R deficiency inherited?
Combined immunodeficiency due to IL21R deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency due to IL21R deficiency typically begin?
Typical onset of Combined immunodeficiency due to IL21R deficiency is childhood. Age of onset can vary across affected individuals.