IPEX syndrome
ICD-10 E31.0 · ICD-11 4A01.21

First-Line Treatment of IPEX Syndrome

This protocol addresses IPEX syndrome at first line. The therapeutic goal is complete disease remission, and the approach centres on a curative transplantation strategy. The structured regimen specifies the relevant donor and graft source considerations.

Treatment Approach

The established first-line intervention for IPEX syndrome is allogeneic hematopoietic stem cell transplantation. The full protocol defines the specific donor selection criteria and graft source options that inform clinical decision-making.

Treatment Goals

Disease resolution and complete IPEX syndrome remission. Evidence supports that even partial donor engraftment can be sufficient to achieve full remission.

References

  • Currently, the primary therapeutic approach for IPEX syndrome is allogeneic hematopoietic stem cell transplantation (HSCT).
  • Allogeneic HSCT is the therapy of choice for IPEX syndrome.
  • Cells from either human leukocyte antigen (HLA)-identical siblings or other HLA-matched donors are used for HSCT.
  • Patients receive HSCT from cord blood, peripheral blood, or bone marrow.
  • Only partial donor chimerism was sufficient for complete IPEX syndrome remission.
  • HSCT results in disease resolution with a better quality of life, regardless of age, donor source, or conditioning regimen.

DOI: 10.3390/genes12030323

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