Overview
Combined immunodeficiency due to ITK deficiency is a rare inherited disease that weakens the immune system, making it very hard for the body to fight certain infections. ITK stands for interleukin-2-inducible T-cell kinase — a protein that helps a type of white blood cell called T-cells work properly. When the ITK gene does not work correctly, T-cells cannot do their job, leaving the body vulnerable to serious infections, especially from a virus called Epstein-Barr virus (EBV), which causes mononucleosis in healthy people but can be life-threatening in those with ITK deficiency. Children with this condition often develop severe, uncontrolled EBV infections that can lead to a dangerous condition called lymphoproliferative disease, where certain immune cells grow out of control and can turn into lymphoma (a type of blood cancer). The immune system is broadly weakened, so other infections can also become serious. This disease is sometimes called ITK deficiency or autosomal recessive ITK deficiency. Treatment focuses on protecting the immune system, controlling infections, and in many cases pursuing a stem cell transplant (also called a bone marrow transplant), which is currently the only potentially curative option. Early diagnosis is very important because outcomes are much better when treatment starts before severe complications develop.
Key symptoms:
Severe or repeated Epstein-Barr virus (EBV) infectionsSwollen lymph nodes that do not go awayEnlarged spleenEnlarged liverFever that lasts a long timeExtreme tiredness and low energyUncontrolled growth of immune cells (lymphoproliferative disease)Development of lymphoma (blood cancer)Frequent or unusual infectionsLow levels of certain immune cells (T-cells) in the bloodFailure to thrive or poor growth in young childrenAnemia (low red blood cell count)
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
No FDA-approved treatments are currently listed for Combined immunodeficiency due to ITK deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to ITK 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
Travel Grants
No travel grants are currently matched to Combined immunodeficiency due to ITK deficiency.
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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.Is a stem cell transplant recommended for my child, and how soon should it happen?,What infections should I be most worried about, and what should I do if my child develops a fever?,Does my child need immunoglobulin replacement therapy, and how is it given?,Should other family members, including siblings, be tested for ITK deficiency?,What signs would tell me that my child's condition is getting worse and needs urgent attention?,Are there any clinical trials or research studies my child might be eligible for?,What long-term monitoring will my child need after treatment?
Common questions about Combined immunodeficiency due to ITK deficiency
What is Combined immunodeficiency due to ITK deficiency?
Combined immunodeficiency due to ITK deficiency is a rare inherited disease that weakens the immune system, making it very hard for the body to fight certain infections. ITK stands for interleukin-2-inducible T-cell kinase — a protein that helps a type of white blood cell called T-cells work properly. When the ITK gene does not work correctly, T-cells cannot do their job, leaving the body vulnerable to serious infections, especially from a virus called Epstein-Barr virus (EBV), which causes mononucleosis in healthy people but can be life-threatening in those with ITK deficiency. Children with
How is Combined immunodeficiency due to ITK deficiency inherited?
Combined immunodeficiency due to ITK 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 ITK deficiency typically begin?
Typical onset of Combined immunodeficiency due to ITK deficiency is childhood. Age of onset can vary across affected individuals.