IPEX

The cover of 'Rare Disease Series #21 IPEX.'

About IPEX

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) is a rare disorder derived from defective FOXP3 gene, related to the process of making T regulatory cells.

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) is a rare genetic disorder characterized by multiple autoimmune symptoms in our body organs such as intestines, skin, and endocrine glands.

The disease is derived from the defective FOXP3 gene on the X-chromosome, which is a gene related to the process of making T regulatory cells. T regulatory cells are known to play a role in the active suppression of inappropriate immune responses.

PREVALENCE / ONSET

World map background  words saying "Affects approximately 1 in 1,600,000 worldwide."
Prevalence
IPEX is one of the rarest diseases. It is known to affect approximately 1 in 1,600,000 worldwide.

Onset
Symptoms of IPEX usually appear in infancy. The disorder can be fatal before age 2 years if not treated.

SYMPTOMS

Six major symptoms of IPEX: severe diarrhea, hematochezia, failure to thrive, hypothyroidism, autoimmune hemolytic anemia

DIAGNOSIS

To diagnose IPEX, genetic testing such as whole exome sequencing and whole genome sequencing is necessary.

Since IPEX is one of the rarest diseases, genetic testing is necessary to make a final diagnosis. Whole exome sequencing (WES) and whole genome sequencing (WGS) are the available tests for such purpose.

INHERITANCE PATTERN

Two family trees showing both possible cases of X-linked recessive inheritance pattern.

IPEX is inherited in an X-linked recessive pattern. Since it is ‘recessive,’ there need to be both copies of the defective FOXP3 gene to cause the disorder. Theoretically, only males are affected in X-linked recessive disorders. However, there are some female cases reported with one mutated FOXP3 gene presenting mild symptoms too.

TREATMENTS

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  2. Early bone marrow transplantation(BMT) can generally be considered as a curative treatment of IPEX. It can bring dramatic effects for some patients, but that does not mean that it is applicable for all patients suffering from IPEX. A careful approach considering the patient’s condition is always important.

    James, diagnosed with IPEX with 3billion was not able to get BMT due to lowered condition from long enteropathy. Instead, he had to get intravenous immunoglobulin (IVIG) replacement.

    To learn more, Read our IPEX diagnosis story.

Helpful communities for IPEX

Currently, no specific support groups are available for IPEX.
Visit the websites below to learn more about various support groups.

National Organization for Rare Disorders

EURORDIS