Inherited immune disorders

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Also called: IPEX · IPEX syndrome · FOXP3 deficiency · X-linked autoimmunity-allergic dysregulation syndrome

What a donor has to do with this

For some people with this condition, a transplant using blood stem cells from an unrelated donor is part of the treatment guidelines. When a transplant is the right route and no one in the family matches, that donor comes from a registry. Not everyone with this condition has a transplant, and many never need one.

This is our reading of published transplant guidelines for this condition, not a measurement of how many people need a donor. Where a source actually counted donors, the figure and the people it counted are shown further down. Where none did, we say so rather than estimate.

What the evidence says

Who it affects: Typical onset/diagnosis: affected boys usually present in infancy with severe autoimmunity, although milder cases can present after age 20. Evidence: U.S. Immune Deficiency Foundation review (2019; accessed 2026); no markedly enriched geographic population was identified.
Treatments other than a transplant: Sirolimus- or calcineurin-based immunosuppression — standard noncurative management — multiple regions — May control autoimmunity but does not correct FOXP3 deficiency.
If a transplant is used, the cells come from: bone marrow: used in opened IEI transplant guidance; disease-specific share was not reported; mobilized peripheral blood stem cells: used in opened IEI transplant guidance; disease-specific share was not reported; umbilical cord blood: used as an alternative in opened IEI transplant guidance; disease-specific share was not reported; dominance: no dominant graft source was reported in the opened disease-specific sources
How often the donor was unrelated: Not reported. No source we could read states this for this condition, so we do not give a number. An estimate here would be a guess dressed as evidence.

Where this gets complicated

Phenotypic IPEX-like disease without a pathogenic FOXP3 variant is heterogeneous and should not be counted automatically in this row.; Stable mixed donor chimerism can be sufficient, but the necessary lineage-specific chimerism threshold is not uniform across studies.

Written for transplant clinicians, not for patients. We quote it so you can see what the guidance actually says:

“The only transformative treatment for IPEX at the present time is HSCT, also referred to as bone marrow transplantation.”

It describes what teams consider in general. It cannot say what applies to any one person. Read the source.

People with this condition need donors

Joining a registry is a cheek swab and a short health form. You are contacted only if you turn out to be a possible match for someone, and you can ask questions and decline before anything else happens.

Find your registry

Related conditions

Others in inherited immune disorders. They are genuinely different diseases with different treatments — the group name is not a diagnosis.

Where this came from

IPEX syndrome — Immune Deficiency Foundation, accessed 2026-07-31
Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity — EBMT/ESID Inborn Errors Working Party, 2021
EBMT Handbook, Chapter 90: Inborn Errors of Immunity — EBMT/Springer, 2024-04-11