Living with Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
A rare immune condition with long-lasting yeast infections, gut and hormone problems, and autoimmune disease, usually starting in infancy.
Understanding Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Most people have chronic yeast infections of the skin and mouth (chronic mucocutaneous candidiasis) in infancy or early childhood. Other features vary widely and include repeated infections, gut inflammation, and autoimmune conditions such as an underactive thyroid or diabetes. Some have thin bones, delayed puberty, or widened blood vessels in the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long-lasting yeast infections (chronic mucocutaneous candidiasis)
- Weakened immune system
- Diarrhea and gut inflammation
- Autoimmune conditions
- Delayed puberty and slow growth
- Thin bones (osteoporosis)
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, cancer specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in STAT1 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); Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); 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
GARD says changes in the STAT1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; immunodeficiency 31c; immunodeficiency 31c, autosomal dominant; immunodeficiency 31c, chronic mucocutaneous candidiasis, autosomal dominant; immunodeficiency type 31c
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 Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome.
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