Question 1

What is combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

Combined immunodeficiency due to STIM1 deficiency is a form of combined immunodeficiency that affects the immune system and other organ systems, and is characterized by recurrent infections, autoimmunity, congenital myopathy, and features of ectodermal dysplasia. The condition is caused by pathogenic variants in the STIM1 gene, which plays a key role in calcium entry by regulating the CRAC channel. It is inherited in an autosomal recessive manner, meaning that an affected individual inherits two altered copies of the gene, a situation that is more common when parents share a common ancestor. Because the condition is very rare, it affects fewer than 1 in 1,000,000 people.

Question 2

What are the symptoms of combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

The clinical presentation of combined immunodeficiency due to STIM1 deficiency is marked by several characteristic features. Virtually all affected individuals experience recurrent bacterial infections, sepsis, recurrent overall infections, and immunodeficiency, along with consistent findings such as amelogenesis imperfecta, hypoplasia of the iris, autoimmune thrombocytopenia, hypotonia, and even Kaposi's sarcoma. In addition, a subset of patients may develop features such as nephrotic syndrome, decreased circulating immunoglobulin levels (IgG and IgM), recurrent urinary tract infections, autoimmune hemolytic anemia, recurrent otitis media, hypoglycemia, lymphadenopathy, recurrent pneumonia, splenomegaly, altered immunoglobulin profiles, and hepatomegaly. Not all individuals experience every feature, and severity varies considerably.

Question 3

What causes combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

This condition is caused by pathogenic variants in the STIM1 gene, which encodes a critical protein required for proper calcium entry into cells via the CRAC channel. Disruption of this channel results in impaired immune response as well as associated abnormalities in muscle and ectodermal development. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two mutated copies of the gene to be affected. This condition is more common when parents share a common ancestor, as the likelihood of both carrying the same rare variant is increased. Families are encouraged to seek genetic counseling to further understand inheritance patterns and implications for family planning. Associated genes include STIM1.

Question 4

How is combined immunodeficiency due to STIM1 deficiency inherited?

Accepted Answer

combined immunodeficiency due to STIM1 deficiency follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

combined immunodeficiency due to STIM1 deficiency is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is combined immunodeficiency due to STIM1 deficiency diagnosed?

Accepted Answer

The diagnosis of combined immunodeficiency due to STIM1 deficiency is confirmed through molecular genetic testing that identifies pathogenic variants in the STIM1 gene. In addition to genetic testing, a thorough clinical evaluation—including an assessment of the history of recurrent infections, autoimmunity, congenital myopathy, and ectodermal dysplasia—is essential in forming the diagnostic picture. Because the symptoms can overlap with those seen in other conditions, genetic confirmation is critical to distinguish this disorder from similar diseases.

Question 7

Are there treatments for combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved treatments or established foundational therapies specific to this condition. Treatment is highly individualized and is typically provided by a multidisciplinary team that emphasizes regular surveillance to detect complications early. Supportive care measures may include preventive strategies against infections and timely interventions for autoimmune manifestations and other complications. Patients and their families are also encouraged to benefit from genetic counseling, and care providers should work together to tailor management plans based on each individual’s needs.

Question 8

Are there clinical trials for combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

Yes, there are currently 3 active clinical trials for combined immunodeficiency due to STIM1 deficiency registered on ClinicalTrials.gov. Clinical trials test new treatments, procedures, or approaches. Your healthcare provider can help determine if a trial might be appropriate for your situation. Visit the Treatment section of this page for more details.

Question 9

What complications can arise from combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

Individuals with combined immunodeficiency due to STIM1 deficiency may face several complications, including recurrent infections, autoimmune disorders, and issues related to muscle and ectodermal development. Some patients may also experience nephrotic syndrome, autoimmune hemolytic anemia, and recurrent urinary tract infections. The severity of these complications can vary widely among affected individuals.

Question 10

How does combined immunodeficiency due to STIM1 deficiency affect daily life?

Accepted Answer

Living with combined immunodeficiency due to STIM1 deficiency can be challenging, as affected individuals often deal with frequent infections and the need for ongoing medical care. Families may need to implement preventive measures against infections, such as vaccinations and regular check-ups. Supportive care and a tailored management plan are essential to help improve quality of life.

Question 11

What is the prognosis for someone with combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

The prognosis for individuals with combined immunodeficiency due to STIM1 deficiency varies based on the severity of symptoms and access to specialized care. With appropriate management and monitoring, many individuals can experience an improved quality of life over time. However, the long-term outlook can differ significantly from one person to another.

Question 12

What specialists should be involved in the care of someone with combined immunodeficiency due to STIM1 deficiency?

Accepted Answer

Care for individuals with combined immunodeficiency due to STIM1 deficiency typically involves a multidisciplinary team of specialists. This may include immunologists, genetic counselors, and other healthcare providers who can address the various aspects of the condition. Regular collaboration among these specialists is important to ensure comprehensive care and support for the patient and their family.

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combined immunodeficiency due to STIM1 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Recent Publications

combined immunodeficiency due to STIM1 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is combined immunodeficiency due to STIM1 deficiency?

What are the symptoms of combined immunodeficiency due to STIM1 deficiency?

What causes combined immunodeficiency due to STIM1 deficiency?

How is combined immunodeficiency due to STIM1 deficiency inherited?

How rare is combined immunodeficiency due to STIM1 deficiency?

How is combined immunodeficiency due to STIM1 deficiency diagnosed?

Are there treatments for combined immunodeficiency due to STIM1 deficiency?

Are there clinical trials for combined immunodeficiency due to STIM1 deficiency?

What complications can arise from combined immunodeficiency due to STIM1 deficiency?

How does combined immunodeficiency due to STIM1 deficiency affect daily life?

What is the prognosis for someone with combined immunodeficiency due to STIM1 deficiency?

What specialists should be involved in the care of someone with combined immunodeficiency due to STIM1 deficiency?

Explore clinical features

Recent Publications