Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

X-linked Lymphoproliferative Syndrome Follow-up

  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
 
Updated: Nov 26, 2015
 

Complications

See the list below:

  • See Pathophysiology.
Next

Prognosis

See the list below:

  • Except for reported cases of optimal outcome after monoclonal anti-CD20, and remission due to stem cell transplantation, few children with X-linked lymphoproliferative syndrome (XLP) survive to adulthood. Therefore, most patients with available matched donors apparently should be referred for transplantation. However, more data are needed to substantiate the efficacy of this form of therapy for X-linked lymphoproliferative disease (XLP).
Previous
 
Contributor Information and Disclosures
Author

Karen Seiter, MD Professor, Department of Internal Medicine, Division of Oncology/Hematology, New York Medical College

Karen Seiter, MD is a member of the following medical societies: American Association for Cancer Research, American College of Physicians, American Society of Hematology

Disclosure: Received honoraria from Novartis for speaking and teaching; Received consulting fee from Novartis for speaking and teaching; Received honoraria from Celgene for speaking and teaching.

Coauthor(s)

Doris Ponce, MD Fellow, Department of Hematology/Oncology, New York Medical College

Doris Ponce, MD is a member of the following medical societies: American College of Physicians, American Medical Association, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Koyamangalath Krishnan, MD, FRCP, FACP Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, Royal College of Physicians

Disclosure: Nothing to disclose.

Acknowledgements

M Wayne Saville, MD Associate Professor of Clinical Medicine, University of California at San Diego; Director, Hematology and Oncology, Global Medical Affairs, Biogen Idec, Inc

M Wayne Saville, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine and Sigma Xi

Disclosure: Nothing to disclose.

References
  1. Chaganti S, Ma CS, Bell AI, et al. Epstein-Barr virus persistence in the absence of conventional memory B cells: IgM+IgD+CD27+ B cells harbor the virus in X-linked lymphoproliferative disease patients. Blood. 2008 Aug 1. 112(3):672-9. [Medline].

  2. Rigaud S, Fondanèche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006 Nov 2. 444(7115):110-4. [Medline].

  3. Lankester AC, Visser LF, Hartwig NG, et al. 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. [Medline].

  4. Milone MC, Tsai DE, Hodinka RL, et al. Treatment of primary Epstein-Barr virus infection in patients with X-linked lymphoproliferative disease using B-cell-directed therapy. Blood. 2005 Feb 1. 105(3):994-6. [Medline]. [Full Text].

  5. Sullivan JL. The abnormal gene in X-linked lymphoproliferative syndrome. Curr Opin Immunol. 1999 Aug. 11(4):431-4. [Medline].

  6. Brandau O, Schuster V, Weiss M, et al. Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum Mol Genet. 1999 Dec. 8(13):2407-13. [Medline]. [Full Text].

  7. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998 Oct. 20(2):129-35. [Medline].

  8. Nichols KE, Harkin DP, Levitz S, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1998 Nov 10. 95(23):13765-70. [Medline]. [Full Text].

  9. Purtilo DT, Grierson HL, Davis JR, Okano M. The X-linked lymphoproliferative disease: from autopsy toward cloning the gene 1975-1990. Pediatr Pathol. 1991 Sep-Oct. 11(5):685-710. [Medline].

  10. Harrington DS, Weisenburger DD, Purtilo DT. Malignant lymphoma in the X-linked lymphoproliferative syndrome. Cancer. 1987 Apr 15. 59(8):1419-29. [Medline].

  11. Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011 Jan 6. 117(1):53-62. [Medline].

  12. Ambrosio MR, Rocca BJ, Ginori A, Mourmouras V, Amato T, Vindigni C, et al. A Look Into the Evolution of Epstein-Barr Virus-Induced Lymphoproliferative Disorders: A Case Study. Am J Clin Pathol. 2015 Nov. 144 (5):817-22. [Medline].

  13. Ma CS, Nichols KE, Tangye SG. Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annu Rev Immunol. 2007. 25:337-79. [Medline].

  14. Tangye SG, Lazetic S, Woollatt E, et al. Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol. 1999 Jun 15. 162(12):6981-5. [Medline]. [Full Text].

  15. Sayos J, Wu C, Morra M, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 1998 Oct 1. 395(6701):462-9. [Medline].

  16. Bárcena P, Jara-Acevedo M, Tabernero MD, López A, Sánchez ML, García-Montero AC, et al. Phenotypic profile of expanded NK cells in chronic lymphoproliferative disorders: a surrogate marker for NK-cell clonality. Oncotarget. 2015 Nov 6. [Medline].

  17. Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, et al. 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. 2011 Feb 3. 117(5):1522-9. [Medline].

  18. Marsh RA, Bleesing JJ, Filipovich AH. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods. 2010 Oct 31. 362(1-2):1-9. [Medline]. [Full Text].

  19. Marsh RA, Bleesing JJ, Filipovich AH. Flow cytometric measurement of SLAM-associated protein and X-linked inhibitor of apoptosis. Methods Mol Biol. 2013. 979:189-97. [Medline].

  20. Gross TG, Filipovich AH, Conley ME, et al. Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): report from the XLP registry. Bone Marrow Transplant. 1996 May. 17(5):741-4. [Medline].

  21. Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011 Jan 6. 117(1):53-62. [Medline].

  22. Gürgey A, Sayli T, Kara A, Kale G, Berkel I. Treatment of X-linked lymphoproliferative disease (Duncan disease) with high-dose methylprednisolone and etoposide (VP-16). Turk J Pediatr. 1996 Apr-Jun. 38(2):217-22. [Medline].

  23. Rivat C, Booth C, Alonso-Ferrero M, Blundell M, Sebire NJ, Thrasher AJ. SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood. 2013 Feb 14. 121(7):1073-6. [Medline].

  24. Amrolia P, Gaspar HB, Hassan A, et al. Nonmyeloablative stem cell transplantation for congenital immunodeficiencies. Blood. 2000 Aug 15. 96(4):1239-46. [Medline]. [Full Text].

  25. Marsh RA, Madden L, Kitchen BJ, ET AL. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 May 20. epub ahead of print. [Medline].

  26. Nagy N, Klein E. Deficiency of the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. Immunol Lett. 2010 May 4. 130(1-2):13-8. [Medline].

  27. Nagy N, Matskova L, Hellman U, Klein G, Klein E. The apoptosis modulating role of SAP (SLAM associated protein) contributes to the symptomatology of the X linked lymphoproliferative disease. Cell Cycle. 2009 Oct 1. 8(19):3086-90. [Medline].

  28. Purtilo DT, Cassel C, Yang JP. Fatal infectious mononucleosis in familial lymphohistiocytosis (letter). N Engl J Med. 1974 Oct 3. 291(14):736. [Medline].

  29. Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975 Apr 26. 1(7913):935-40. [Medline].

  30. Purtilo DT, DeFlorio D Jr, Hutt LM, et al. Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. N Engl J Med. 1977 Nov 17. 297(20):1077-80. [Medline].

  31. Purtilo DT, Yang JP, Allegra S, et al. Hematopathology and pathogenesis of the X-linked recessive lymphoproliferative syndrome. Am J Med. 1977 Feb. 62(2):225-33. [Medline].

  32. Snow AL, Marsh RA, Krummey SM, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest. 2009 Oct. 119(10):2976-89. [Medline]. [Full Text].

  33. Sumegi J, Huang D, Lanyi A, et al. Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood. 2000 Nov 1. 96(9):3118-25. [Medline]. [Full Text].

  34. Tran H, Nourse J, Hall S, et al. Immunodeficiency-associated lymphomas. Blood Rev. 2008 Sep. 22(5):261-81. [Medline].

  35. Veillette A. SLAM-family receptors: immune regulators with or without SAP-family adaptors. Cold Spring Harb Perspect Biol. 2010 Mar. 2(3):a002469. [Medline]. [Full Text].

  36. Williams LL, Rooney CM, Conley ME, et al. Correction of Duncan's syndrome by allogeneic bone marrow transplantation. Lancet. 1993 Sep 4. 342(8871):587-8. [Medline].

  37. Ziegner UH, Ochs HD, Schanen C, et al. Unrelated umbilical cord stem cell transplantation for X-linked immunodeficiencies. J Pediatr. 2001 Apr. 138(4):570-3. [Medline].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.