Allogeneic hematopoietic cell transplantation for XIAPdeficiency: An international survey reveals poor outcomes

Blood

Volumn 121, Issue 6, 2013, Pages 877-883

  Marsh, Rebecca A ^a   Rao, Kanchan ^b   Satwani, Prakash ^c   Lehmberg, Kai ^d   Müller, Ingo ^d   Li, Dandan ^a   Kim, Mi Ok ^a   Fischer, Alain ^e   Latour, Sylvain ^f   Sedlacek, Petr ^g   Barlogis, Vincent ^h   Hamamoto, Kazuko ⁱ   Kanegane, Hirokazu ^j   Milanovich, Sam ^k   Margolis, David A ^k   Dimmock, David ^l   Casper, James ^k   Douglas, Dorothea N ^m   Amrolia, Persis J ^b   Veys, Paul ^b   Kumar, Ashish R ^a   Jordan, Michael B ^a   Bleesing, Jack J ^a   Filipovich, Alexandra H ^a   more..

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c NewYork Presbyterian Hospital   (United States)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e IMAGINE INSTITUTE   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^h TIMONE HOSPITAL   (France)

ⁱ ATOMIC BOMB SURVIVORS HOSPITAL   (Japan)

^j UNIVERSITY OF TOYAMA   (Japan)

^k CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^l MEDICAL COLLEGE OF WISCONSIN   (United States)

^m UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALEMTUZUMAB; FLUDARABINE; MELPHALAN; X LINKED INHIBITOR OF APOPTOSIS;

ADOLESCENT; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; CHILD; CLINICAL ARTICLE; HUMAN; INFANT; LUNG HEMORRHAGE; MYELOABLATIVE CONDITIONING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REDUCED INTENSITY CONDITIONING; REMISSION; SCHOOL CHILD; SURVIVAL RATE; SURVIVAL TIME; TREATMENT OUTCOME; X LINKED INHIBITOR OF APOPTOSIS DEFICIENCY;

EID: 84873606153     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-06-432500     Document Type: Article

References (30)

1. Henter JI, Samuelsson-Horne A, Arico M, et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002;100(7): 2367-2373.
2. Horne A, Janka G, Maarten Egeler R, et al. Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol. 2005;129(5):622-630. (Pubitemid 40825824)
3. Ouachée-Chardin M, Elie C, de Saint Basile G, et al. Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a singlecenter report of 48 patients. Pediatrics. 2006; 117(4):e743-750. (Pubitemid 46071479)
4. Baker KS, Filipovich AH, Gross TG, et al. Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Bone Marrow Transplant. 2008;42(3):175-180.
5. Cesaro S, Locatelli F, Lanino E, et al. Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica. 2008;93(11):1694-1701.
6. Ohga S, Kudo K, Ishii E, et al. Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein-Barr virusassociated hemophagocytic lymphohistiocytosis in Japan. Pediatr Blood Cancer. 2010;54(2):299-306.
7. Yoon HS, Im HJ, Moon HN, et al. The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis. Pediatr Transplant. 2010;14(6):735-740.
8. Shenoy S, Grossman WJ, DiPersio J, et al. A novel reduced-intensity stem cell transplant regimen for nonmalignant disorders. Bone Marrow Transplant. 2005;35(4):345-352. (Pubitemid 40309479)
9. Cooper N, Rao K, Gilmour K, et al. Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood. 2006;107(3):1233-1236. (Pubitemid 43156331)
10. Cooper N, Rao K, Goulden N,Webb D, Amrolia P, Veys P. The use of reduced-intensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis. Bone Marrow Transplant. 2008;42(suppl 2):S47-50.
11. Marsh RA, Vaughn G, Kim MO, et al. Reducedintensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood. 2010;116(26):5824-5831.
12. 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;36(2):99-105. (Pubitemid 41030624)
13. Booth C, Gilmour KC, Veys P, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011;117(1):53-62.
14. Kanegane H, Yang X, Zhao M, et al. Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. Pediatr Allergy Immunol. 2012;23(5):488-493.
15. Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444(7115):110-114. (Pubitemid 44684766)
16. 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;116(7): 1079-1082.
17. Yang X, Kanegane H, Nishida N, et al. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol. 2012;32(3):411-420.
18. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13(3):255-262.
19. Duckett CS, Nava VE, Gedrich RW, et al. A conserved family of cellular genes related to the baculovirus iap gene and encoding apoptosis inhibitors. EMBO J. 1996;15(11):2685-2694. (Pubitemid 26176246)
20. Harlin H, Reffey SB, Duckett CS, Lindsten T, Thompson CB. Characterization of XIAP-deficient mice. Mol Cell Biol. 2001;21(10):3604-3608. (Pubitemid 32381796)
21. Jost PJ, Grabow S, Gray D, et al. XIAP discriminates between type I and type II FAS-induced apoptosis. Nature. 2009;460(7258):1035-1039.
22. Rumble JM, Oetjen KA, Stein PL, Schwartzberg PL, Moore BB, Duckett CS. Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). Cell Immunol. 2009;259(1):82-89.
23. Fakler M, Loeder S, Vogler M, et al. Small molecule XIAP inhibitors cooperate with TRAIL to induce apoptosis in childhood acute leukemia cells and overcome Bcl-2-mediated resistance. Blood. 2009;113(8):1710-1722.
24. Schimmer AD, Estey EH, Borthakur G, et al. Phase I/II trial of AEG35156 X-linked inhibitor of apoptosis protein antisense oligonucleotide combined with idarubicin and cytarabine in patients with relapsed or primary refractory acute myeloid leukemia. J Clin Oncol. 2009;27(28):4741-4746.
25. Marsh RA, Villanueva J, Zhang K, et al. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009;76(5):334-344.
26. Bacigalupo A, Ballen K, Rizzo D, et al. Defining the intensity of conditioning regimens: working definitions. Biol Blood Marrow Transplant. 2009; 15(12):1628-1633.
27. Przepiorka D, Weisdorf D, Martin P, et al. 1994 Consensus Conference on Acute GVHD Grading. Bone Marrow Transplant. 1995;15(6):825-828.
28. Filipovich AH. Diagnosis and manifestations of chronic graft-versus-host disease. Best Pract Res Clin Haematol. 2008;21(2):251-257. (Pubitemid 351712714)
29. Shaw BE, Arguello R, Garcia-Sepulveda CA, Madrigal JA. The impact of HLA genotyping on survival following unrelated donor haematopoietic stem cell transplantation. Br J Haematol. 2010; 150(3):251-258.
30. Pachlopnik Schmid J, Canioni D, Moshous D, 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;117(5): 1522-1529.