Overview
Severe combined immunodeficiency due to CTPS1 deficiency (also called CTPS1-SCID) is a rare inherited disease that severely weakens the immune system. It is caused by changes (mutations) in a gene called CTPS1, which provides instructions for making an enzyme that helps immune cells grow and multiply. Without this enzyme working properly, the body cannot make enough T cells and NK cells — two types of white blood cells that are essential for fighting infections. B cells may also be affected. Because the immune system cannot respond normally, people with this condition are extremely vulnerable to serious and life-threatening infections. The disease usually becomes apparent in childhood, when affected children begin having repeated, severe infections — especially with viruses like Epstein-Barr virus (EBV) and other herpes-type viruses. These infections can be unusually severe or hard to control. Children may also develop lymphoma (a type of blood cancer) linked to EBV infection, which is a serious complication. The main treatment goal is to restore the immune system. Hematopoietic stem cell transplantation (HSCT) — also called a bone marrow transplant — is currently the best available treatment and can be curative if done early and successfully. Without transplant, the outlook is very serious. This condition is distinct from other forms of SCID but shares many features with them, and early diagnosis is critical to improving outcomes.
Also known as:
Key symptoms:
Repeated and severe viral infections, especially Epstein-Barr virus (EBV)Severe or unusual herpes virus infectionsRecurring bacterial and fungal infectionsSwollen lymph nodes that do not go awayUnexplained fever lasting a long timeExtreme tiredness and low energyPoor growth or failure to thrive in young childrenDevelopment of EBV-related lymphoma (blood cancer)Lung infections that keep coming backReduced number of T cells and NK cells on blood tests
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 Severe combined immunodeficiency due to CTPS1 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Severe combined immunodeficiency due to CTPS1 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 CTPS1 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.Is my child a candidate for bone marrow transplant, and how soon should it happen?,What infections should I be most worried about, and what are the warning signs I should act on immediately?,Should other family members be tested for the CTPS1 gene mutation?,What preventive medications does my child need, and for how long?,Are there any clinical trials or new treatments we should consider?,What does the transplant process involve, and what are the risks?,How will we know if the transplant has worked and the immune system is recovering?
Common questions about Severe combined immunodeficiency due to CTPS1 deficiency
What is Severe combined immunodeficiency due to CTPS1 deficiency?
Severe combined immunodeficiency due to CTPS1 deficiency (also called CTPS1-SCID) is a rare inherited disease that severely weakens the immune system. It is caused by changes (mutations) in a gene called CTPS1, which provides instructions for making an enzyme that helps immune cells grow and multiply. Without this enzyme working properly, the body cannot make enough T cells and NK cells — two types of white blood cells that are essential for fighting infections. B cells may also be affected. Because the immune system cannot respond normally, people with this condition are extremely vulnerable
How is Severe combined immunodeficiency due to CTPS1 deficiency inherited?
Severe combined immunodeficiency due to CTPS1 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 CTPS1 deficiency typically begin?
Typical onset of Severe combined immunodeficiency due to CTPS1 deficiency is childhood. Age of onset can vary across affected individuals.