Overview
Combined immunodeficiency due to GINS1 deficiency is a very rare inherited disease that weakens the immune system, making it hard for the body to fight off infections. GINS1 is a gene that provides instructions for making a protein that helps cells copy their DNA correctly. When this gene does not work properly, certain immune cells — especially natural killer (NK) cells and CD8+ T cells — cannot grow and develop as they should. This leaves the body poorly defended against viruses, bacteria, and fungi. Children with this condition typically start having serious, repeated infections very early in life. Common problems include severe viral infections (such as those caused by herpesviruses and other viruses that healthy immune systems usually control easily), bacterial infections, and sometimes unusual or opportunistic infections that rarely affect people with normal immunity. Growth problems and failure to thrive are also frequently seen. This disease is also sometimes referred to as GINS1-related combined immunodeficiency or NK cell and CD8 T cell deficiency due to GINS1 mutations. Treatment currently focuses on protecting patients from infections using preventive medicines and, in some cases, bone marrow (stem cell) transplantation, which may offer the best chance of correcting the immune defect. Early diagnosis is very important to prevent life-threatening complications.
Also known as:
Key symptoms:
Repeated and severe viral infectionsBacterial infections that keep coming backUnusual or opportunistic infections (infections that normally do not affect healthy people)Very low numbers of natural killer (NK) immune cells in the bloodLow numbers of CD8+ T cells (a type of infection-fighting white blood cell)Slow growth or failure to gain weight normallyFever that keeps returningSwollen lymph nodesSkin infections or rashesLung infections such as pneumoniaHerpesvirus infections that are unusually severe or hard to control
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 Combined immunodeficiency due to GINS1 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to GINS1 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 GINS1 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 stem cell transplantation, and what are the risks and benefits?,Which preventive medicines does my child need, and how long will they need to take them?,What signs of infection should make me go to the emergency room right away?,Should other family members be tested for the GINS1 gene change?,Are there any clinical trials or research studies my child could join?,What vaccinations are safe for my child, and which ones should be avoided?,How often does my child need blood tests to monitor their immune cell counts?
Common questions about Combined immunodeficiency due to GINS1 deficiency
What is Combined immunodeficiency due to GINS1 deficiency?
Combined immunodeficiency due to GINS1 deficiency is a very rare inherited disease that weakens the immune system, making it hard for the body to fight off infections. GINS1 is a gene that provides instructions for making a protein that helps cells copy their DNA correctly. When this gene does not work properly, certain immune cells — especially natural killer (NK) cells and CD8+ T cells — cannot grow and develop as they should. This leaves the body poorly defended against viruses, bacteria, and fungi. Children with this condition typically start having serious, repeated infections very early
How is Combined immunodeficiency due to GINS1 deficiency inherited?
Combined immunodeficiency due to GINS1 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 GINS1 deficiency typically begin?
Typical onset of Combined immunodeficiency due to GINS1 deficiency is infantile. Age of onset can vary across affected individuals.