Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature

Bone Marrow Transplant. 2005 Jul;36(2):99-105. doi: 10.1038/sj.bmt.1705016.

Abstract

X-linked lymphoproliferative disease (XLP) is a rare immunodeficiency caused by mutations in the signaling lymphocyte activating molecule-associated protein/SH2D1A gene and characterized by a dysregulated immune response to Epstein-Barr virus and other pathogens. The clinical presentation is heterogeneous and includes fulminant infectious mononucleosis, lymphoma, hypogammaglobulinemia and aplastic anemia. XLP is associated with a high morbidity and overall outcome is poor. At present, allogeneic stem cell transplantation (alloSCT) is the only curative treatment. XLP patients may be recognized in various stages of disease and even when symptoms are not yet evident. We here present two related XLP patients in different stages of disease that were both treated successfully with alloSCT using a matched unrelated donor. In addition, we have reviewed all reported cases of alloSCTs in XLP patients. Based on these results and in order to improve the final outcome, we conclude that alloSCT should be recommended in both symptomatic and asymptomatic XLP patients.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Family
  • Female
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / pathology
  • Lymphoproliferative Disorders / therapy*
  • Male
  • Neoplasm Staging
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Transplantation, Homologous

Substances

  • Intracellular Signaling Peptides and Proteins
  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein