Living with Combined immunodeficiency due to STIM1 deficiency
A rare inherited immune condition with repeated infections in childhood, low muscle tone and soft tooth enamel.
Understanding Combined immunodeficiency due to STIM1 deficiency
Repeated infections begin in childhood because T and NK immune cells do not work well, and how severe it is varies. People may also have low muscle tone, reduced sweating or soft tooth enamel (amelogenesis imperfecta). It appears in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial infections
- Repeated ear infections and pneumonia
- Low muscle tone (hypotonia)
- Soft tooth enamel
- Autoimmune anemia and low platelets
- Enlarged liver, spleen and lymph nodes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in STIM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the STIM1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cid due to stim1 deficiency; immunodeficiency 10; immunodeficiency type 10; stim1 deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency due to STIM1 deficiency.
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