{
  "abstract": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease is due to an inherited defect in immunity from loss-of-function mutations in the magnesium transporter 1 gene (MAGT1). Patients can present as adults with XMEN disease from a delayed diagnosis or lack of genetic diagnosis. Allogeneic stem-cell transplantation is curative in XMEN disease, but the mortality is high, especially in adults. Defective N-glycosylation of platelet glycoproteins impairs platelet aggregation and risks fatal mucosal haemorrhage (such as posterior epistaxis with airway obstruction and haemorrhagic shock requiring intubation) early during post-transplant aplasia. Maintaining a platelet level of at least 30×109/L until engraftment could avoid life-threatening haemorrhage. This is the first report of a successful second allogeneic stem-cell transplant in XMEN disease. Allogeneic stem-cell transplant in adults with XMEN disease should be considered as a curative option in patients with suitable donors.",
  "authors": [
    {
      "affiliations": [
        "Massey Comprehensive Cancer Center, Virginia Commonwealth University, Richmond, Virginia, USA"
      ],
      "name": "Baldeep Wirk"
    }
  ],
  "title": "Second allogeneic stem cell transplantation for XMEN disease",
  "uid": "321e7fde-3fa5-582b-aa02-8c914a9cb3d5"
}