Overview
Combined immunodeficiency due to ORAI1 deficiency is a very rare inherited immune system disorder. The ORAI1 gene provides instructions for making a protein that forms a calcium channel on the surface of immune cells. This channel is essential for allowing calcium to flow into cells, which is a key signal that activates T cells and other immune cells to fight infections. When the ORAI1 protein is missing or not working properly, the immune system cannot mount an effective defense against germs. Patients with this condition typically become sick in infancy with severe, repeated infections including pneumonia, chronic diarrhea, and skin infections. Many affected children also develop autoimmune problems, where the immune system mistakenly attacks the body's own tissues. Additional features can include muscle weakness (myopathy), reduced sweating leading to problems with body temperature regulation, and dental enamel defects. Some patients may also have enlarged liver and spleen. Without treatment, this condition is life-threatening. The most effective treatment is a hematopoietic stem cell transplant (bone marrow transplant), which can replace the faulty immune system with a healthy one. Before transplant, patients need aggressive infection prevention and treatment, including antibiotics, antifungal medications, and immunoglobulin replacement therapy. Early diagnosis and referral to a specialized immunology center are critical for the best outcomes.
Also known as:
Key symptoms:
Frequent and severe infectionsChronic diarrheaRecurrent pneumonia and lung infectionsSkin infectionsMuscle weaknessReduced or absent sweatingDifficulty regulating body temperatureDental enamel defectsEnlarged liver and spleenPoor weight gain and failure to thriveAutoimmune problems such as low blood cell countsFungal infections like thrush that keep coming backChronic viral infections
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 ORAI1 deficiency.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to ORAI1 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 ORAI1 deficiency.
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Caregiver Resources
NORD Caregiver Resources
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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.How severe is my child's immune deficiency, and what infections are we most at risk for?,Is my child a candidate for bone marrow transplant, and when should it be done?,What steps should we take to prevent infections while waiting for transplant?,Will the muscle weakness and sweating problems improve after transplant?,Are there clinical trials or new therapies being studied for ORAI1 deficiency?,Should other family members be tested to see if they are carriers?,What emergency signs should prompt us to go to the hospital immediately?
Common questions about Combined immunodeficiency due to ORAI1 deficiency
What is Combined immunodeficiency due to ORAI1 deficiency?
Combined immunodeficiency due to ORAI1 deficiency is a very rare inherited immune system disorder. The ORAI1 gene provides instructions for making a protein that forms a calcium channel on the surface of immune cells. This channel is essential for allowing calcium to flow into cells, which is a key signal that activates T cells and other immune cells to fight infections. When the ORAI1 protein is missing or not working properly, the immune system cannot mount an effective defense against germs. Patients with this condition typically become sick in infancy with severe, repeated infections incl
How is Combined immunodeficiency due to ORAI1 deficiency inherited?
Combined immunodeficiency due to ORAI1 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 ORAI1 deficiency typically begin?
Typical onset of Combined immunodeficiency due to ORAI1 deficiency is infantile. Age of onset can vary across affected individuals.