Overview
Combined immunodeficiency due to DOCK2 deficiency is a very rare inherited disease that affects the immune system. It is caused by changes (mutations) in the DOCK2 gene, which gives the body instructions for making a protein that helps immune cells move and work properly. When this protein is missing or does not work, key immune cells — including T cells, B cells, and natural killer (NK) cells — cannot do their jobs. This leaves the body unable to fight off infections the way a healthy immune system would. Children with DOCK2 deficiency are usually diagnosed in infancy or early childhood. They tend to get severe, repeated, or unusual infections — including bacterial, viral, and fungal infections — that most healthy children would easily fight off. Some children also have problems with inflammation in the lungs and other organs. The immune deficiency can be life-threatening without treatment. The main treatment is a stem cell transplant (also called a bone marrow transplant), which can replace the faulty immune system with a healthy one. Before and after transplant, children often need preventive antibiotics, antifungal medicines, antiviral medicines, and immunoglobulin replacement therapy (antibody infusions) to protect them from infections. Early diagnosis and prompt treatment are very important for improving outcomes.
Also known as:
Key symptoms:
Severe and repeated infections from an early ageBacterial infections that are hard to treatViral infections that are unusually severeFungal infections in places not normally affectedLow numbers of T cells (cells that fight infection)Low numbers of B cells (cells that make antibodies)Low or absent natural killer (NK) cellsLung inflammation or damagePoor growth or failure to thriveFever that keeps coming backSwollen lymph nodesSkin infections or rashes related to immune problems
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 DOCK2 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to DOCK2 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 DOCK2 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 my child a candidate for a stem cell transplant, and how soon should it happen?,What infections should I watch for most closely, and when should I go to the emergency room?,What preventive medicines does my child need, and how long will they need them?,How do we find the best stem cell donor for my child?,Are there any clinical trials or research studies we should know about?,What long-term effects might my child have even after a successful transplant?,Should other family members be tested for the DOCK2 gene mutation?
Common questions about Combined immunodeficiency due to DOCK2 deficiency
What is Combined immunodeficiency due to DOCK2 deficiency?
Combined immunodeficiency due to DOCK2 deficiency is a very rare inherited disease that affects the immune system. It is caused by changes (mutations) in the DOCK2 gene, which gives the body instructions for making a protein that helps immune cells move and work properly. When this protein is missing or does not work, key immune cells — including T cells, B cells, and natural killer (NK) cells — cannot do their jobs. This leaves the body unable to fight off infections the way a healthy immune system would. Children with DOCK2 deficiency are usually diagnosed in infancy or early childhood. The
How is Combined immunodeficiency due to DOCK2 deficiency inherited?
Combined immunodeficiency due to DOCK2 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 DOCK2 deficiency typically begin?
Typical onset of Combined immunodeficiency due to DOCK2 deficiency is infantile. Age of onset can vary across affected individuals.