Skip to main content
SpringerLink
Log in

Duncan Syndrome

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 114 Accesses

Abstract

In 1975, Purtilo et al. (1975) reported the Duncan pedigree in which 6 of 18 males died of a lymphoproliferative disorder. The boys, aged between 2 and 19 years, exhibited a progressive combined variable immunodeficiency disease characterized by benign or malignant proliferation of lymphocytes, histiocytosis, and alterations in concentrations of serum immunoglobulins. This condition is now known as Duncan syndrome or X-linked lymphoproliferative syndrome (XLP) which is a rare T and NK cell immune deficiency which most frequently presents as fulminant infectious mononucleosis following infection with the Epstein-Barr virus (EBV) in most affected boys, leading to death in 50 % of the cases.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

References

  • Boyle, G. J., Michaels, M. G., Webber, S. A., et al. (1997). Posttransplantation lymphoproliferative disorders in pediatric thoracic organ recipients. The Journal of Pediatrics, 131, 309–313.

    Article  CAS  PubMed  Google Scholar 

  • Cavazzana-Calvo, M., Hacein-Bey, S., de Saint, B. G., et al. (2000). Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science, 288, 669–672.

    Article  CAS  PubMed  Google Scholar 

  • Coffey, A., Brooksbank, R., Brandau, O., et al. (1998). Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2- domain encoding gene. Nature Genetics, 20, 129–135.

    Article  CAS  PubMed  Google Scholar 

  • Collins, M. H., Montone, K. T., Leahey, A. M., et al. (2001). Autopsy pathology of pediatric posttransplant lymphoproliferative disorder. Pediatrics, 107, E89.

    Article  CAS  PubMed  Google Scholar 

  • Conley, M. E., Notarangelo, L. D., & Etzioni, A. (1999). Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clinical Immunology, 93, 190–197.

    Article  CAS  PubMed  Google Scholar 

  • Filipovich, A., Johnson, J., Zhang, K., et al. (2013). Lymphoproliferative disease, X-linked [Duncan disease, XLPD]. Gene Review. Retrieved 19 Sept 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1406/

  • Gaspar, H. B., Sharifi, R., Gilmour, K. C., et al. (2002). X-linked lymphoproliferative disease: Clinical, diagnostic and molecular perspective [Review]. British Journal of Haematology, 119, 585–595.

    Article  CAS  PubMed  Google Scholar 

  • Gross, T. G., Filipovich, A. H., Conley, M. E., et al. (1996). Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): Report from the XLP registry. Bone Marrow Transplantation, 17, 741–744.

    CAS  PubMed  Google Scholar 

  • Harrington, D. S., Weisenburger, D. D., & Purtilo, D. T. (1987). Malignant lymphoma in the X-linked lymphoproliferative syndrome. Cancer, 59, 1419–1429.

    Article  CAS  PubMed  Google Scholar 

  • Henter, J. I., Arico, M., Egeler, R. M., et al. (1997). HLH-94: A treatment protocol for hemophagocytic lymphohistiocytosis. HLH study Group of the Histiocyte Society. Medical and Pediatric Oncology, 28, 342–347.

    Article  CAS  PubMed  Google Scholar 

  • Ho, M., Jaffe, R., Miller, G., et al. (1988). The frequency of Epstein-Barr virus infection and associated lymphoproliferative syndrome after transplantation and its manifestation in children. Transplantation, 45, 719–727.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lankester, A. C., Visser, L. F. A., Hartwig, N. G., et al. (2005). Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: Two cases in one family and review of the literature. Bone Marrow Transplantation, 36, 99–105.

    Article  CAS  PubMed  Google Scholar 

  • Latour, S., & Veillette, A. (2003). Molecular and immunological basis of X-linked lymphoproliferative disease. Immunological Reviews, 192, 212–224.

    Article  CAS  PubMed  Google Scholar 

  • Marsh, R. A., Madden, L., Kitchen, B. J., et al. (2010). XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood, 19, 1079–1082.

    Article  Google Scholar 

  • Milone, M. C., Tsai, D. E., Hodinka, R. L., et al. (2005). Treatment of primary Epstein-Barr virus infection in patients with X-linked lymphoproliferative disease using B-cell-directed therapy. Blood, 105, 994–996.

    Article  CAS  PubMed  Google Scholar 

  • Morra, M., Howie, D., Grande, M. S., et al. (2001). X-linked lymphoproliferative disease: A progressive immunodeficiency. Annual Review of Immunology, 19, 657–682.

    Article  CAS  PubMed  Google Scholar 

  • Nalesnik, M. A., Rao, A. S., Rurukawa, H., et al. (1997). Autologous lymphokine activated killer cell therapy of Epstein-Bar virus-positive and – Negative lymphoproliferative disorders arising in organ transplant recipients. Transplantation, 63, 1200–1205.

    Article  CAS  PubMed  Google Scholar 

  • Nichols, K. E., Ma, C. S., Cannons, J. L., et al. (2005). Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunological Reviews, 203, 180–199.

    Article  CAS  PubMed  Google Scholar 

  • Pachlopnik Schmid, J., Canioni, D., Moshous, D., et al. (2011). Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117, 1522–1529.

    Article  PubMed  Google Scholar 

  • Pracher, E., Panzer-Grumayer, E. R., Zoubek, A., et al. (1994). Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis. Bone Marrow Transplantation, 13, 655–658.

    CAS  PubMed  Google Scholar 

  • Purtilo, D. T., Cassel, C. K., Yang, J. P., et al. (1975). X-linked recessive progressive combined variable immunodeficiency (Duncan’s disease). Lancet, 1, 935–940.

    Article  CAS  PubMed  Google Scholar 

  • Purtilo, D. T., Sakamoto, K., Barnabei, V., et al. (1982). Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): Update on studies of the registry. The American Journal of Medicine, 73, 49–56.

    Article  CAS  PubMed  Google Scholar 

  • Salzer, U., Hagena, T., Webster, D. B., et al. (2008). Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency. International Archives of Allergy and Immunology, 147, 147–151.

    Article  CAS  PubMed  Google Scholar 

  • Sayos, J., Wu, C., Morra, M., et al. (1998). The X-linked lymphoproliferative disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature, 395, 462–469.

    Article  CAS  PubMed  Google Scholar 

  • Seiter, K. (2015). X-linked lymphoproliferative syndrome. eMedicine from WebMD. Updated 26 Nov 2015. Available at: http://emedicine.medscape.com/article/203780-overview

  • Sullivan, J. L., & Woda, B. A. (1989). X-linked lymphoproliferative syndrome. Immunodeficiency Reviews, 1, 325–347.

    CAS  PubMed  Google Scholar 

  • Sumegi, J., Huang, D., Lanyi, A., et al. (2000). Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood, 96, 3118–3125.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Duncan Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_71-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_71-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation