Overview
Susceptibility to infection due to TYK2 deficiency is a rare inherited immune system disorder caused by mutations in the TYK2 gene. TYK2 (Tyrosine Kinase 2) is a protein that plays an important role in how your immune system responds to infections. It helps your body's cells communicate through signaling pathways that are critical for fighting off bacteria, viruses, fungi, and other germs. When TYK2 is missing or not working properly, the immune system cannot mount a full defense against certain infections. People with this condition are especially vulnerable to infections caused by mycobacteria (the family of bacteria that causes tuberculosis), viruses (such as herpes simplex), and fungi. Symptoms typically begin in childhood and may include recurring or unusually severe infections, particularly of the lungs, skin, and other organs. Some patients may also experience features that overlap with a condition called hyper-IgE syndrome, such as elevated levels of a type of antibody called IgE, skin problems like eczema, and recurrent skin abscesses. There is currently no cure for TYK2 deficiency. Treatment focuses on preventing and managing infections through the use of antibiotics, antifungal medications, and antiviral drugs. In some cases, interferon therapy may be considered. Patients require close monitoring by immunology specialists throughout their lives. Early diagnosis through genetic testing is important so that preventive measures can be started as soon as possible to reduce the risk of life-threatening infections.
Key symptoms:
Recurring severe bacterial infectionsTuberculosis or infections caused by related mycobacteriaRecurring viral infections such as herpes simplexFungal infectionsSkin abscesses or boilsEczema or chronic skin rashesLung infections or pneumoniaElevated IgE levels in the bloodPoor wound healingChronic diarrhea from gut infectionsFailure to thrive or poor growth in childrenFever that keeps coming back
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 Susceptibility to infection due to TYK2 deficiency.
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Specialists
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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
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Caregiver Resources
NORD Caregiver 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.How severe is my child's TYK2 deficiency, and which parts of the immune system are most affected?,What preventive medications should my child take, and for how long?,Which vaccines are safe and which should be avoided?,What are the warning signs of a serious infection that would require emergency care?,Should other family members be tested for TYK2 mutations?,Is bone marrow transplantation an option for my child, and what are the risks and benefits?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Susceptibility to infection due to TYK2 deficiency
What is Susceptibility to infection due to TYK2 deficiency?
Susceptibility to infection due to TYK2 deficiency is a rare inherited immune system disorder caused by mutations in the TYK2 gene. TYK2 (Tyrosine Kinase 2) is a protein that plays an important role in how your immune system responds to infections. It helps your body's cells communicate through signaling pathways that are critical for fighting off bacteria, viruses, fungi, and other germs. When TYK2 is missing or not working properly, the immune system cannot mount a full defense against certain infections. People with this condition are especially vulnerable to infections caused by mycobacte
How is Susceptibility to infection due to TYK2 deficiency inherited?
Susceptibility to infection due to TYK2 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Susceptibility to infection due to TYK2 deficiency typically begin?
Typical onset of Susceptibility to infection due to TYK2 deficiency is childhood. Age of onset can vary across affected individuals.