X-linked Lymphoproliferative Syndrome Questions & Answers

1. Jin YY, Zhou W, Tian ZQ, Chen TX. Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature. Hum Immunol. 2016 Aug. 77 (8):658-66. [QxMD MEDLINE Link].

2. Lyu X, Guo Z, Li Y, Fan R, Song Y. Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. BMC Med Genet. 2018 Apr 12. 19 (1):60. [QxMD MEDLINE Link]. [Full Text].

3. Zhang JY, Chen SC, Chen YY, Li SY, Zhang LL, Shen YH, et al. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. PLoS One. 2017. 12 (2):e0172173. [QxMD MEDLINE Link]. [Full Text].

4. U.S. National Library of Medicine. X-linked lymphoproliferative disease. Genetic Home Reference. Available at https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease#statistics. May 17, 2021; Accessed: January 22, 2022.

5. 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. [QxMD MEDLINE Link].

6. Panchal N, Booth C, Cannons JL, Schwartzberg PL. X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective. Front Immunol. 2018. 9:666. [QxMD MEDLINE Link]. [Full Text].

7. 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. [QxMD MEDLINE Link].

8. 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. [QxMD MEDLINE Link]. [Full Text].

9. 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. [QxMD MEDLINE Link].

10. 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. [QxMD MEDLINE Link].

11. 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. [QxMD MEDLINE Link].

12. 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. [QxMD MEDLINE Link].

13. Zhang K, Wakefield E, Marsh R, Adam MP, Ardinger HH, Pagon RA, et al. Lymphoproliferative Disease, X-Linked. GeneReviews [Internet]. June 30, 2016. [QxMD MEDLINE Link]. [Full Text].

14. Holle JR, Marsh RA, Holdcroft AM, Davies SM, Wang L, Zhang K, et al. Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation. Pediatr Blood Cancer. 2015 Jul. 62 (7):1288-90. [QxMD MEDLINE Link].

15. 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. [QxMD MEDLINE Link]. [Full Text].

16. 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. [QxMD MEDLINE Link].

17. 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. [QxMD MEDLINE Link]. [Full Text].

18. Chen RY, Li XZ, Lin Q, Zhu Y, Shen YY, Xu QY, et al. Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report. BMC Pediatr. 2020 Oct 2. 20 (1):456. [QxMD MEDLINE Link]. [Full Text].

19. Bergsten E, Horne A, Aricó M, Astigarraga I, Egeler RM, Filipovich AH, et al. Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study. Blood. 2017 Dec 21. 130 (25):2728-2738. [QxMD MEDLINE Link]. [Full Text].

20. Faguer S, Vergez F, Peres M, Ferrandiz I, Casemayou A, Belliere J, et al. Tocilizumab added to conventional therapy reverses both the cytokine profile and CD8+Granzyme+ T-cells/NK cells expansion in refractory hemophagocytic lymphohistiocytosis. Hematol Oncol. 2016 Mar. 34 (1):55-7. [QxMD MEDLINE Link].

21. Ghosh S, Gaspar HB. Gene Therapy Approaches to Immunodeficiency. Hematol Oncol Clin North Am. 2017 Oct. 31 (5):823-834. [QxMD MEDLINE Link].

22. 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. [QxMD MEDLINE Link].

23. 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. [QxMD MEDLINE Link].

24. Marsh RA, Bleesing JJ, Chandrakasan S, Jordan MB, Davies SM, Filipovich AH. Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1. Biol Blood Marrow Transplant. 2014 Oct. 20 (10):1641-5. [QxMD MEDLINE Link]. [Full Text].

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.

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.

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.

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.

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.

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.

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