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Second allogeneic stem cell transplantation for XMEN disease.

Baldeep Wirk1

  • 1Massey Comprehensive Cancer Center, Virginia Commonwealth University, Richmond, Virginia, USA.

BMJ Case Reports
|March 23, 2026
PubMed
Summary

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease is caused by MAGT1 gene mutations. A second stem cell transplant offers a curative option for adults with XMEN disease, despite high risks.

Keywords:
ChemotherapyHaematology (incl blood transfusion)Immunologic Deficiency SyndromesMalignant and Benign haematology

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Area of Science:

  • Immunology
  • Genetics
  • Hematology

Background:

  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease results from MAGT1 gene mutations.
  • Adult patients often face delayed diagnosis, increasing treatment complexity.
  • Allogeneic stem-cell transplantation is curative but carries high mortality, particularly in adults.

Purpose of the Study:

  • To report the first successful second allogeneic stem-cell transplant in an adult with XMEN disease.
  • To highlight the potential of stem cell transplantation as a curative option for adult XMEN patients.

Main Methods:

  • Case report of a patient with XMEN disease undergoing a second allogeneic stem-cell transplant.
  • Management of post-transplant complications, including impaired platelet aggregation and mucosal hemorrhage.
  • Monitoring platelet levels to prevent life-threatening bleeding.

Main Results:

  • Successful engraftment following the second allogeneic stem-cell transplant.
  • Demonstrated the feasibility of a second transplant in managing XMEN disease.
  • Controlled life-threatening mucosal hemorrhage through meticulous platelet support.

Conclusions:

  • Second allogeneic stem-cell transplantation is a viable curative strategy for adult XMEN disease patients with suitable donors.
  • Aggressive platelet management is crucial to mitigate fatal hemorrhage risks during post-transplant aplasia.
  • Early diagnosis and genetic confirmation are vital for timely intervention in XMEN disease.