Overview
Combined immunodeficiency due to STK4 deficiency is a rare inherited condition that weakens the immune system, making it very hard for the body to fight off infections. STK4 (also called MST1) is a gene that plays an important role in helping certain white blood cells, especially T cells and B cells, survive and work properly. When this gene does not function correctly, the number and function of these immune cells drop significantly. This condition is also known as MST1 deficiency or STK4 deficiency. Children with this condition typically begin experiencing frequent and severe infections early in life, including skin infections, lung infections, ear infections, and viral infections such as those caused by Epstein-Barr virus (EBV) and human papillomavirus (HPV). Many patients develop warts that are widespread and difficult to treat. Some patients also develop autoimmune problems, where the immune system mistakenly attacks the body's own tissues, leading to issues like low blood cell counts (cytopenias) or heart problems including structural heart defects. Treatment focuses on preventing and managing infections through antibiotics, antiviral medications, and immunoglobulin replacement therapy. Hematopoietic stem cell transplantation (bone marrow transplant) is the only potentially curative treatment and has been performed in some patients. Without treatment, the disease can be life-threatening due to overwhelming infections or complications from EBV-related lymphoproliferative disease, a condition where immune cells grow uncontrollably.
Also known as:
Key symptoms:
Frequent and severe bacterial infectionsRecurrent viral infectionsWidespread and hard-to-treat wartsRecurrent skin abscesses or boilsFrequent ear infectionsRecurrent pneumonia or lung infectionsEnlarged lymph nodesLow white blood cell countsLow platelet countsAutoimmune problemsStructural heart defectsEBV-related lymphoproliferative diseaseOral thrush or fungal infectionsFailure to thrive or poor growthEnlarged spleen
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 Combined immunodeficiency due to STK4 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to STK4 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 STK4 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.How severe is my child's immune deficiency based on current blood work?,Should we consider bone marrow transplantation, and what are the risks and benefits?,What infections should we be most worried about, and how can we prevent them?,How often should EBV viral load and immune cell counts be monitored?,Are there any vaccines my child should avoid or specifically receive?,What are the signs of lymphoproliferative disease that I should watch for?,Should other family members be tested for this genetic condition?
Common questions about Combined immunodeficiency due to STK4 deficiency
What is Combined immunodeficiency due to STK4 deficiency?
Combined immunodeficiency due to STK4 deficiency is a rare inherited condition that weakens the immune system, making it very hard for the body to fight off infections. STK4 (also called MST1) is a gene that plays an important role in helping certain white blood cells, especially T cells and B cells, survive and work properly. When this gene does not function correctly, the number and function of these immune cells drop significantly. This condition is also known as MST1 deficiency or STK4 deficiency. Children with this condition typically begin experiencing frequent and severe infections ear
How is Combined immunodeficiency due to STK4 deficiency inherited?
Combined immunodeficiency due to STK4 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 STK4 deficiency typically begin?
Typical onset of Combined immunodeficiency due to STK4 deficiency is childhood. Age of onset can vary across affected individuals.