autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Findings
No curated finding names autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
Definition from the Mondo Disease Ontology (MONDO:0013599), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
68 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 2 of 2 reported patients
- ImmunodeficiencyHPOHP:0002721
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Abnormal intestine morphologyHPOHP:0002242
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Functional abnormality of the bladderHPOHP:0000009
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STAT1HGNC:11362
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
- Also called
- immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominantimmunodeficiency type 31C