Overview
Severe combined immunodeficiency due to LAT deficiency (also called LAT-SCID) is an extremely rare inherited disease that severely weakens the immune system. LAT stands for 'Linker for Activation of T cells,' a protein that plays a critical role in helping T cells — a type of white blood cell — grow and work properly. Without a functioning LAT protein, the body cannot make enough working T cells, and the immune system is unable to fight off infections the way it should. Because the immune system is so severely impaired, children with LAT-SCID are vulnerable to life-threatening infections from bacteria, viruses, and fungi that would not normally cause serious illness in healthy people. Symptoms typically appear in the first months of life and include repeated or severe infections, poor weight gain, chronic diarrhea, and skin rashes. This condition falls under the broader group of diseases called severe combined immunodeficiency (SCID), sometimes referred to as 'bubble boy disease,' because affected children must be protected from everyday germs. Without treatment, LAT-SCID is life-threatening in early childhood. The main treatment option is a stem cell transplant (also called a bone marrow transplant), which can restore immune function. Early diagnosis is critical because outcomes are much better when treatment is started before serious infections occur. Newborn screening programs in some countries now test for SCID, which can help identify affected babies early.
Also known as:
Key symptoms:
Repeated or unusually severe infectionsInfections that do not get better with standard treatmentPoor weight gain or failure to thriveChronic diarrheaSkin rashes or eczema-like skin problemsThrush (fungal infection in the mouth) that keeps coming backLung infections such as pneumoniaSwollen lymph nodes or absent lymph nodesVery low number of T cells in the bloodFever without a clear cause
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 Severe combined immunodeficiency due to LAT deficiency.
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Specialists
View all specialists →No specialists are currently listed for Severe combined immunodeficiency due to LAT 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 Severe combined immunodeficiency due to LAT 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.What is my child's current T cell count, and what does that mean for their risk of infection right now?,How quickly do we need to find a stem cell donor, and what types of donors are suitable?,What protective measures should we take at home to keep our child safe from infections?,What signs of infection should prompt us to go to the emergency room immediately?,Is our child eligible for any clinical trials or gene therapy studies?,What is the expected timeline for immune recovery after a stem cell transplant?,Should other family members be tested for the LAT gene mutation?
Common questions about Severe combined immunodeficiency due to LAT deficiency
What is Severe combined immunodeficiency due to LAT deficiency?
Severe combined immunodeficiency due to LAT deficiency (also called LAT-SCID) is an extremely rare inherited disease that severely weakens the immune system. LAT stands for 'Linker for Activation of T cells,' a protein that plays a critical role in helping T cells — a type of white blood cell — grow and work properly. Without a functioning LAT protein, the body cannot make enough working T cells, and the immune system is unable to fight off infections the way it should. Because the immune system is so severely impaired, children with LAT-SCID are vulnerable to life-threatening infections from
How is Severe combined immunodeficiency due to LAT deficiency inherited?
Severe combined immunodeficiency due to LAT deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe combined immunodeficiency due to LAT deficiency typically begin?
Typical onset of Severe combined immunodeficiency due to LAT deficiency is infantile. Age of onset can vary across affected individuals.