Inherited immune disorders
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
IPEX syndrome is an X-linked disorder of immune regulation caused by FOXP3 variants. The immune system can attack the intestine, skin and endocrine organs, causing severe diarrhea, eczema and autoimmune disease such as diabetes.
Other names and abbreviations
IPEX · IPEX syndrome · FOXP3 deficiency · X-linked autoimmunity-allergic dysregulation syndrome
Where transplant fits
Allogeneic transplantation can restore immune regulation using a suitable donor, including an unrelated donor. Existing damage, such as established insulin-dependent diabetes, may still require treatment afterward.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Usually recognized in boys early in life, although presentation and severity vary.
- Other treatment options
- Immune suppression, nutritional support and treatment of endocrine, skin and infectious complications help stabilize the person and may be used when transplant is not selected.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
Immune reconstitution is not equivalent to regrowth of every damaged organ. Transplant risk and timing depend on current disease control and organ health.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- IPEX Syndrome
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
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