immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Findings
No curated finding names immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
Definition from the Mondo Disease Ontology (MONDO:0010580), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
77 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.
- Chronic diarrheaHPOHP:0002028
- 28 of 28 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 102 of 111 reported patients
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- 97 of 116 reported patients
- Frequent (30% to 79% of cases)
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 66 of 88 reported patients
- Abnormal circulating electrolyte concentrationHPOHP:0003111
- Frequent (30% to 79% of cases)
Show the remaining 65
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Inflammatory abnormality of the skinHPOHP:0011123
- Frequent (30% to 79% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Frequent (30% to 79% of cases)
- Secretory diarrheaHPOHP:0005208
- Frequent (30% to 79% of cases)
- ThyroiditisHPOHP:0100646
- Frequent (30% to 79% of cases)
- Type I diabetes mellitusHPOHP:0100651
- 43 of 88 reported patients
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.
- FOXP3HGNC:6106
- Definitive · ClinGen · X-linked · 2023
- Definitive · G2P · X-linked · 2017
- Definitive · Natera · X-linked recessive · 2023
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
18 names
Resolves to: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- Also called
- autoimmune enteropathy type 1autoimmunity-immunodeficiency syndrome, X-linkeddiabetes mellitus, congenital insulin-dependent, with fatal secretory diarrheadiabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoeadiarrhea, polyendocrinopathy, fatal infection syndrome, X-linkedDMSDIDDM-secretory diarrhea syndromeIDDM-secretory diarrhoea syndromeimmune dysfunction and diarrhea syndromeimmune dysfunction and diarrhoea syndromeimmune dysregulation, polyendocrinopathy, and enteropathy X-linked syndromeimmunodysregulation, polyendocrinopathy, and enteropathy, X-linkedimmunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive