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Start free with EleplanImmune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
ORPHA:37042Disease
Also called Autoimmune enteropathy type 1 · IPEX
What it is
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
15- Abnormal blood ion concentration
- Abnormal intestine morphology
- Abnormality of the endocrine system
- Allergy
- Anti-thyroid peroxidase antibody positivity
- Crusting erythematous dermatitis
- Eczematoid dermatitis
- Failure to thrive in infancy
- Increased circulating IgE concentration
- Inflammatory abnormality of the skin
- Iron deficiency anemia
- Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
- Secretory diarrhea
- Thyroiditis
- Type I diabetes mellitus
Sometimes5–29%
28- Abnormal blistering of the skin
- Anti-liver cytosolic antigen type 1 antibody positivity
- Autoimmune hemolytic anemia
- Autoimmune thrombocytopenia
- Cachexia
- Decreased circulating prealbumin concentration
- Decreased total neutrophil count
- Elevated circulating hepatic transaminase concentration
and 20 more in this range
Rare1–4%
15- Alopecia
- Colitis
- Dependency on intravenous nutrition
- Gastritis
- Hyperthyroidism
- Ileus
- Lymphadenopathy
- Meningitis
and 7 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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