Overview
Combined immunodeficiency due to STIM1 deficiency is a very rare inherited disorder that severely weakens the immune system. STIM1 (Stromal Interaction Molecule 1) is a protein that plays a key role in controlling calcium entry into immune cells. When the STIM1 gene does not work properly, immune cells — especially T cells — cannot activate and function normally. This leads to a condition called combined immunodeficiency, meaning both the cellular and antibody-based parts of the immune system are impaired. Children with this condition typically become sick very early in life with frequent, severe, and unusual infections that healthy children would normally fight off easily. These infections can involve the lungs, skin, gut, and other organs. In addition to immune problems, STIM1 deficiency can cause other issues because calcium signaling is important in many cell types. Patients may develop problems with their muscles (myopathy), abnormalities of tooth enamel (dental enamel defects), excessive sweating problems, and an increased tendency for autoimmune complications where the immune system mistakenly attacks the body's own tissues. Without treatment, this condition is life-threatening. The most definitive treatment is hematopoietic stem cell transplantation (bone marrow transplant), which can restore immune function. Supportive care includes antibiotics, antifungal medications, and immunoglobulin replacement therapy to help prevent and treat infections while awaiting or in lieu of transplant.
Also known as:
Key symptoms:
Frequent and severe infections starting in infancyRecurrent pneumonia or lung infectionsChronic diarrheaFailure to thrive or poor weight gainSkin infections or rashesMuscle weakness (myopathy)Dental enamel defectsAutoimmune problems such as low blood cell countsEnlarged liver or spleenFungal infections such as thrush that keep coming backReduced or absent sweating (anhidrosis or hypohidrosis)Low levels of antibodies in the bloodSwollen lymph nodes
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 STIM1 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to STIM1 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 STIM1 deficiency.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's immune deficiency, and what infections are they most at risk for?,Is my child a candidate for bone marrow transplant, and when should it be done?,What preventive medications should my child be taking, and for how long?,Are there any signs or symptoms I should watch for that would require emergency care?,Will the muscle weakness and dental problems improve with treatment?,Should other family members be tested for carrier status?,Are there any clinical trials or new therapies being studied for STIM1 deficiency?
Common questions about Combined immunodeficiency due to STIM1 deficiency
What is Combined immunodeficiency due to STIM1 deficiency?
Combined immunodeficiency due to STIM1 deficiency is a very rare inherited disorder that severely weakens the immune system. STIM1 (Stromal Interaction Molecule 1) is a protein that plays a key role in controlling calcium entry into immune cells. When the STIM1 gene does not work properly, immune cells — especially T cells — cannot activate and function normally. This leads to a condition called combined immunodeficiency, meaning both the cellular and antibody-based parts of the immune system are impaired. Children with this condition typically become sick very early in life with frequent, se
How is Combined immunodeficiency due to STIM1 deficiency inherited?
Combined immunodeficiency due to STIM1 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 STIM1 deficiency typically begin?
Typical onset of Combined immunodeficiency due to STIM1 deficiency is infantile. Age of onset can vary across affected individuals.