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Allografting

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

Bone Marrow Transplantation volume 36, pages 99–105 (2005)Cite this article

Summary:

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.

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Authors and Affiliations

  1. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

    A C Lankester, L F A Visser, R G M Bredius, M J D van Tol & R M Egeler

  2. Department of Pediatrics and Immunology, Erasmus MC University Rotterdam, Rotterdam, The Netherlands

    N G Hartwig & M van der Burg

  3. Molecular Immunology Unit, Institute of Child Health, London, UK

    H B Gaspar

  4. Division of Hematology/Oncology/BMT, Ohio State University, Children's Hospital, Colombus, OH, USA

    T G Gross

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  1. A C Lankester
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Correspondence to A C Lankester.

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Lankester, A., Visser, L., Hartwig, N. et al. Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature. Bone Marrow Transplant 36, 99–105 (2005). https://doi.org/10.1038/sj.bmt.1705016

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