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Autoimmune Enteropathy (AIE)

Autoimmune enteropathy is a rare, severe disorder where the body's immune system mistakenly attacks the lining of the intestines, leading to chronic diarrhea, malabsorption, and failure to thrive

Prevalence

Exact prevalence unknown

100–200

US Estimated

150–300

Europe Estimated

Age of Onset

Infancy

ageofonset infancy https://raremedicalnews.com/wp-content/uploads/2025/08/Depositphotos_4230384_S.jpg

ICD-10

K52.89

Inheritance Pattern

Most cases are sporadic

5 Facts you should know

FACT

1

Autoimmune enteropathy (AIE) is a rare cause of intractable diarrhea, most often presenting in infants and young children, though cases in adults have been reported

FACT

2

It is characterized by small intestinal villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis, resembling celiac disease but unresponsive to a gluten-free diet

FACT

3

AIE is associated with circulating anti-enterocyte or anti-goblet cell antibodies, which can support diagnosis but are not always present

FACT

4

Many patients have additional autoimmune manifestations, such as type 1 diabetes, thyroiditis, or immune dysregulation syndromes like IPEX (FOXP3 mutations)

FACT

5

Management often requires immunosuppressive therapy (e.g., corticosteroids, calcineurin inhibitors, biologics), along with nutritional support to address severe malabsorption

Autoimmune Enteropathy disease is also known as...

Autoimmune Enteropathy disease is also known as:

  • Immune-mediated enteropathy

  • Intractable autoimmune enteropathy

What’s your Rare IQ?

Which feature best distinguishes Autoimmune Enteropathy from celiac disease?

Common signs & symptoms

Severe chronic diarrhea

Malabsorption and failure to thrive

Dependence on parenteral nutrition in some patients

Villous atrophy

Associated autoimmune disorders

Current treatments

Immunosuppressive therapy

(corticosteroids, tacrolimus, cyclosporine, sirolimus, azathioprine)

Biologic therapy

(rituximab, infliximab in refractory cases)

Parenteral nutrition

when severe malabsorption is present

Treatment of associated autoimmune conditions