Primary immunodeficiency diseases

Hematopoietic Stem Cell Transplantation in Clinical Practice

Volumn , Issue , 2009, Pages 153-164

  Veys, Paul ^a   Gaspar, H Bobby ^b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84884444992     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-443-10147-2.50019-9     Document Type: Chapter

References (159)

1. Gatti RA, Meuwissen HJ, Allen HD, et al. Immunological reconstitution of sex linked lymphogenic immunological deficiency. Lancet 1968, ii:1366-1369.
2. Bach FH, Albertini RJ, Anderson JL, et al. Bone marrow transplantation in a patient with the Wiskott-Aldrich syndrome. Lancet 1968, ii:1364-1366.
3. Pollack MS, Kirkpartick D, Kapoor N et al. Identification by HLA typing of intrauterine-derived maternal T cells in four patients with severe combined immunodeficiency. N Engl J Med 11982;307:662-666.
4. Haddad E, Le Deist F, Aucouturier P, et al. Long term chimerism and B cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: a single-centre study of 22 patients. Blood 1999, 94:2923-2930.
5. Heydermann RS, Morgan G, Levinsky RJ, et al. Successful bone marrow transplantation and treatment of BCG infection in two patients with severe combined immunodeficiency. Eur J Pediatr 1991, 150:477-480.
6. Antoine C, Muller S, Cant A, et al. Long-term survival and hematopoietic stem cell transplantation for immunodeficiencies: a survey of the European experience 1968-1999. Lancet 2003, 361:553-560.
7. Fisher A, Landais P, Friedrich W, et al. European experience of bone marrow transplantation for SCID. Lancet 1990, ii:850-854.
8. Fisher A, Griscelli C, Friedrich W, et al. Bone marrow transplantation for immunodeficiencies and osteoporosis. A European survey, 1968-1985. Lancet 1986, ii:2:1080-1084.
9. Buckley RH, Schiff SE, Schiff RI, et al. Haploidentical bone marrow stem cell transplantation in human severe combined immune deficiency. Semin Hematol 1993, 30:92-104.
10. White H, Thrasher A, Veys P, et al. Intrinsic defects of B cell function in X-linked severe combined immunodeficiency. Eur J Immunol 2000, 30:732-737.
11. Ash RC, Casper JT, Chitambar CR, et al. Successful allogenic transplantation of T cell depleted bone marrow from closely HLA matched unrelated donors. N Engl J Med 1990, 322:485-495.
12. Filipovich AH, Shapiro RS, Ramsay NK, et al. Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies. Blood 1992, 80:270-276.
13. Dalal I, Reid B, Doyle J, et al. Matched unrelated bone marrow transplantation for combined immunodeficiency. Bone Marrow Transplant 2000, 25:613-621.
14. O'Reilly RJ, Pollock MS, Kapoor N, et al. Fetal liver transplantation in man and animals. Recent advances in bone marrow transplantation 1989, 789-830. Alan R Liss, New York. R.P. Gale (Ed.).
15. Reisner Y, Kapoor N, Kirkpatrick D, et al. Transplantation for severe combined immunodeficiency with HLA-A,B,D,DR incompatible parental marrow cells fractionated by soybean agglutinin and sheep red blood cells. Blood 1983, 61:341-348.
16. Schumm M, Lang P, Taylor G, et al. Isolation of highly purified autologous and allogeneic peripheral CD34+ cells using the CliniMACS device. J Hematother 1999, 8:209-218.
17. Handgretinger R, Leimig T, Babarin-Dorner A, et al. The potential role of graft engineering strategies in haploidentical stem cell transplantation. Bone Marrow Transplant 2002, 30:S11.
18. Reisner Y, Martelli MF Tolerance induction by 'megadose' transplants of CD34+ stem cells: a new option for leukemia patients without an HLA-matched donor. Curr Opin Immunol 2000, 12:536-541.
19. Bertrand Y, Landais P, Friedrich W, et al. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, t cell depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the European Society for Immunodeficiency. J Pediatr 1999, 134:740-748.
20. Haddad E, Landais P, Friedrich W, et al. Long term immunological reconstitution and outcome after HLA-non-identical T-cell depleted BMT for SCID: An European retrospective study of 116 patients. Blood 1998, 91(10):3646-3653.
21. Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 1999, 18(340):508-516.
22. Myers LA, Patel DD, Puck JM, et al. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 2002, 99:878. 878.
23. Brady KA, Cowan MJ, Leavitt AD Circulating red cells usually remain of host origin after bone marrow transplantation for severe combined immunodeficiency. Transfusion 1996, 36:314-317.
24. Wijnaendts L, Le Deist F, Griscelli C, et al. Development of immunological functions after BMT in 33 patients with SCID. Blood 1989, 74:2212-2219.
25. De Villartay JP, Griscelli C, Fisher RA Self tolerance to host and donor following HLA mismatched BMT. Eur J Immunol 1986, 19:323-329.
26. Kook H, Goldman F, Padley D, et al. Reconstruction of the immune system after unrelated or partially matched T-cell-depleted bone marrow transplantation in children: immunophenotypic analysis and factors affecting the speed of recovery. Blood 1996, 88:1089-1097.
27. Eyrich M, Lang P, Lal S, et al. A prospective analysis of the pattern of immune reconstitution in a paediatric cohort following transplantation of positively selected human leukocyte antigen-disparate hematopoietic stem cells from parental donors. Br J Haematol 2001, 114:422-432.
28. Aversa F, Tabilio A, Velardi A, et al. Treatment of high-risk acute leukemia with T-cell-depleted stem cells from related donors with one fully mismatched HLA haplotype. N Engl J Med 1998, 339:1186-1193.
29. Andre-Schmutz I, Le Deist F, Hacein-Bey-Abina S, et al. Immune reconstitution without graft-versus-host disease after hemopoietic stem-cell transplantation: a phase 1/2 study. Lancet 2002, 360:130-137.
30. Amrolia PJ, Muccioli-Casadei G, Huls H, et al. Adoptive immunotherapy with allodepleted donor T-cells improves immune reconstitution after haploidentical stem cell transplant. Blood 2006, 108(6):1797-1808.
31. Bonini C, Ferrari G, Verzeletti S, et al. HSV-RK gene transfer into donor lymphocytes for control of allogeneic graft-versus-leukemia. Science 1997, 276:1719-1724.
32. Tiberghien P, Ferrand C, Lioure B, et al. Administration of herpes simplex-thymidine kinase-expressing donor T cells with a T-cell-depleted allogeneic marrow graft. Blood 2001, 97:63-72.
33. Patel DD, Gooding ME, Parrott RA, et al. Thymic function after hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 2000, 342:1325-1332.
34. Gluckman E, Koegler G, Rocha V Human leukocyte antigen matching in cord blood transplantation. Semin Hematol 2005, 42:85-90.
35. Bhattacharya A, Slatter MA, Chapman CE, et al. Single centre experience of umbilical cord stem cell transplantation for primary immunodeficiency. Bone Marrow Transplant 2005, 36:1-5.
36. Rocha V, John MD, Wagner JE, et al. Graft versus host disease in children who have received a cord blood or bone marrow transplant from an HLA identical sibling. N Engl J Med 2000, 342:1846-1854.
37. Benito AI, Diaz MA, Gonzalez-Vicent M, et al. Hematopoietic stem cell transplantation using umbilical cord blood progenitors: review of current clinical results. Bone Marrow Transplant 2004, 33:675-690.
38. Slatter MA, Gennery AR Umbilical cord stem cell transplantation for primary immunodeficiencies. Expert Opin Biol Ther 2006, 6:555-565.
39. Shpall EJ, Quinones R, Giller R, et al. Transplantation of ex vivo expanded cord blood. Biol. Blood Marrow Transplant 2002, 8:368-376.
40. Barker JN, Weisdorf DF, Defor TE, et al. Transplantation of 2 partially HLA matched umbilical cord blood units to enhance engraftments in adults with hematologic malignancy. Blood 2005, 105:1343-1347.
41. Kim DW, Chung YJ, Kim TG, et al. Cotransplantation of third party mesenchymal stromal cells can alleviate single donor predominance and increase engraftment from double cord transplantation. Blood 2004, 103:1741-1948.
42. Fernandez MN, Regidor C, Cabrera R, et al. Unrelated umbilical cord blood transplants in adults: Early recovery of neutrophils by supportive co-transplantation of a low number of highly purified peripheral blood CD34+ cells from an HLA haploidentical donor. Exp Hematol 2003, 31:535-544.
43. O'Reilly RJ, Brochstein J, Dinsmore R, et al. Marrow transplantation for congenital disorders. Semin Hematol 1989, 21:188-225.
44. Blazar DR, Ramsay MKC, Kersey JH, et al. Pretransplant conditioning with Busulfan and Cyclophosphamide for non malignant diseases. Transplantation 1985, 39:597-603.
45. Vassal G, Fischer A, Challien D, et al. Busulfan disposition below the age of 3: alteration in children with lysosomal storage disease. Blood 1993, 82:1030-1034.
46. Wachowiak J, Chybicka A, Kowalczyk J, et al. Treosulphan based preparative regimen for allogeneic hematopoietic stem cell transplantation in children with increased risk of conventional regimen toxicity. Blood 2005, 106:500a-501a.
47. Fisher A, Landais P, Friedrich W, et al. Bone marrow transplant (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European group for BMT and the European group for immunodeficiency. Blood 1994, 83:1149-1154.
48. Woolfrey A, Pulsipher MA, Storb R Non-myeloablative hematopoietic cell transplant for treatment of immune deficiency. Curr Opin Pediatr 2001, 13:539-545.
49. Giralt S, Estey E, Albitar M, et al. Engraftment of allogeneic hematopoietic progenitor cells with purine analog-containing chemotherapy: harnessing graft-versus-leukemia without myeloablative therapy. Blood 1997, 89:4531-4536.
50. Slavin S, Nagler A, Naparstek E, et al. Nonmyeloablative stem cell transplantation and cell therapy as an alternative to conventional bone marrow transplantation with lethal cytoreduction for the treatment of malignant and nonmalignant hematologic diseases. Blood 1998, 91:756-763.
51. Amrolia P, Gaspar B, Hassan A, et al. Non-myeloablative stem cell transplantation for congenital immunodeficiencies. Blood 2000, 96:1239-1246.
52. Horowitz ME, Barrett AJ, Brown MR, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med 2001, 344:881-888.
53. Cooper N, Rao K, Gilmour K, et al. Stem cell transplantation with reduced intensity conditioning for hemophagocytic lymphohistiocytosis. Blood 2006, 107:1233-1236.
54. Resnick IB, Shapira MY, Slavin S Nonmyeloablative stem cell transplantation and cell therapy for malignant and non-malignant diseases. Transplant Immunol 2005, 14:207-219.
55. Rao K, Amrolia PJ, Jones A, et al. Improved survival after unrelated donor bone marrow transplant in children with primary immunodeficiency using a reduced intensity conditioning regimen. Blood 2005, 105:879-885.
56. Veys P, Rao K, Amrolia P Stem cell transplantation for congenital immunodeficiencies using reduced-intensity conditioning. Bone Marrow Transplant 2005, 35(suppl 1):S45-47.
57. Cohen J, Rogers V, Gaspar HB, et al. Increased incidence of EBV-related disease following paediatric stem cell transplantation with reduced-intensity conditioning. Br J Haematol 2005, 129:229-239.
58. Storb R, Yu C, Wagner JL, et al. Stable mixed hematopoietic chimerism in DLA identical littermate dogs given sublethal total body irradiation before and pharmacological immunosuppression after marrow transplantation. Blood 1997, 89:3048-3054.
59. Wiskott A Familiärer, angeborener Morbus Werlhoffi?. Monatsschrift für Kinderheilkunde 1937, 68:212-216.
60. Aldrich RA, Steinberg AG, Campbell DC Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhoea. Pediatrics 1954, 13:133-139.
61. Peddy GS, Spector BD, Schuman LM, et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr 1980, 97:72-78.
62. Derry JM, Ochs HD, Franke U Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994, 78:635-644.
63. Lum LG, Tubergen DG, Corash L, et al. Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich Syndrome. N Engl J Med 1980, 302:892-896.
64. Parkman R, Rappeport J, Geha R, et al. Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone marrow transplantation. N Engl J Med 1978, 208:921-927.
65. Buckley RH Bone marrow reconstitution in primary immunodeficiency. Clin Immunol Principles Pract 1995, 2:1813-1830.
66. Filipovich AH, Stone JV, Tomany SC, et al. Impact on donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and National Marrow Donor Program. Blood 2001, 97:1598-1603.
67. Kobayashi R, Ariga T, Nonoyama S, et al. Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol 2006, 135(3):362-366.
68. Elhasid R, Etzioni A Major histocompatability complex class II deficiency: a clinical review. Blood Rev 1996, 10:242-248.
69. Griscelli C, Lisowska-Grospierre B, Mach B Combined immunodeficiency with defective expression of MHC class II genes. Immunodef Rev 1989, 1:135-153.
70. Klieg C, Cavazzana-Calvo M, Le Deist F, et al. Bone marrow transplantation in major histocompatability complex class II deficiency: a single centre study of 19 patients. Blood 1995, 85:580-587.
71. Saleem MA, Arkwright PD, Davies EG, et al. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child 2000, 83:356-359.
72. Omenn G Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965, 273:427-432.
73. Villa A, Sobacchi C, Notarangelo LD, et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 2001, 97:81-88.
74. Rieux-Laucat F, Bahadoran P, Brousse N, et al. Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome. J Clin Invest 1998, 102:312-321.
75. Villa A, Santagata S, Bozzi F, et al. Partial V(D)J recombination activity leads to Omenn's syndrome. Cell 1998, 93:885-896.
76. Cavadini P, Vermi W, Facchetti F, et al. AIRE deficiency in thymus of 2 patients with Omenn symdrome. J Clin Invest 2005, 115:728-732.
77. Gomez L, Le Deist F, Blanche S, et al. Treatment of Omenn syndrome by bone marrow transplantation. J Pediatr 1995, 127:76-81.
78. Loechelt BJ, Shapiro RS, Jyonouchi H, et al. Mismatched bone marrow transplantation for Omenn syndrome: a variant of severe combined immunodeficiency. Bone Marrow Transplant 1995, 16:381-385.
79. Mazzolari E, Moshous D, Forino C, et al. Hematopoietic stem cell transplantation in Omenn syndrome: a single centre experience. Bone Marrow Transplant 2005, 36:107-114.
80. Korthauer U, Graf D, Mages HW, et al. Defective expression of T cell CD 40 ligand caused x linked immunodeficiency with hyper IgM. Nature 1993, 361:539-541.
81. Disanto JP, Bonnefoy JY, Gauchat JF, et al. CD40 Ligand mutations in x linked immunodeficiency with hyper-IgM. Nature 1993, 361:541-543.
82. Van Kooten C, Banchereau J Functions of CD40 on B cells, dendritic cells and other cells. Current Opin Immunol 1997, 9:330-337.
83. Heyward AR, Levy J, Facchetti F, et al. Cholangiopathy and tumours of the pancreas, liver and bilary tree in boys with x linked immunodeficiency with hyper-IgM. J Immunol 1997, 158:977-983.
84. Toniati P, Savoldi G, Jones AM, et al. Report of the ESID collaborative study on clinical features and molecular analysis of x linked hyper IgM syndrome (abstract). Eur Soc Immunodeficiencies Newsletter 2002, F9(supplement):40.
85. Gennery AR, Khawaja K, Veys P, et al. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood 2004, 103:1152-1157.
86. Sayos J, Wu C, Morra M, et al. The X linked lymphoproliferative disease gene product SAP regulates signals through the co-receptor SLAM. Nature 1998, 395:462-469.
87. Seemayer TA, Gross TG, Egeler RM, et al. X linked lymphoproliferative disease: twenty five years after the discovery. Pediatric Res 1995, 38:471-478.
88. Filipovich AH, Blazar BR, Ramsay NK, et al. Allogeneic bone marrow transplantation for X linked lymphoproliferative syndrome. Transplantation 1986, 42:222-224.
89. Lankester AC, Visser LFA, 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, 36:99-105.
90. Rooney CM, Smith CA, Ng CY, et al. Infusion of cytotoxic T cells for the prevention and treatment of Epstein-Barr virus induced lymphoma in allogeneic transplant recipients. Blood 1998, 92:1549-1555.
91. Milone M, 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, 105:994-996.
92. Kostmann R Infantile genetic agranulocytosis. Acta Pediatr Scand 1956, 5:1.
93. Kostmann R Infantile genetic agranulocytosis: a review with presentation of ten new cases. Acta Pediatr Scand 1975, 64:362.
94. Bonilla M, Gillio A, Ruggeiro M, et al. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 1989, 320:1574.
95. Welte K, Gabrilove J, Bronchud MH, et al. Filgrastim (r-metHuG-CSF): the first 10 years. Blood 1996, 88:1907.
96. Zeidler C, Welte K, Barak Y, et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 2000, 4:1195-1198.
97. Welte K, Boxer L Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol 1997, 34:267.
98. Choi SW, Boxer LA, Pulsipher MA, et al. Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation. Bone Marrow Transplant 2005, 35:473-477.
99. Ferry C, Quachee M, Leblanc T, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant 2005, 35:40-50.
100. Lekstrom-Himes JA, Gallin JI Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med 2000, 343:1703-1714.
101. Laksman R, Finn A Neutrophil disorders and their management. J Clin Pathol 2001, 54:7-19.
102. Thomas C, Le Deist F, Cavazzana-Calvo M, et al. Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. Blood 1995, 86:1629-1635.
103. Rao K, Amrolia PJ, Jones A, et al. Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood 2005, 105:879-885.
104. Dupuis S, Doffinger R, Picard C, et al. Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev 2000, 178:129-137.
105. Jouanguy E, Altare F, Lamhamedi-Cherradi S, et al. Infections in IFNGR-1-deficient children. J Interferon Cytokine Res 1997, 17:583-587.
106. Newport MK, Huxley CM, Huston S, et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996, 335:1941-1949.
107. Roesler J, Horwitz ME, Picard C, et al. Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr 2004, 145:806-812.
108. Shwachman H, Diamond LK, Oski FA, et al. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Paediatr 1964, 65:645-663.
109. Dror Y, Freedman MH Shwachman-Diamond syndrome. Br J Haematol 2002, 118:701-703.
110. Savchenko A, Krogan N, Cort JR, et al. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem 2005, 280:19213-19220.
111. Smith OP, Hann IM, Chessells JM, et al. Hematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 1996, 94:279-284.
112. Cesaro S, Oneto R, Messina C, et al. 2006. Hematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation. Br J Haematol 2005, 131:231-236.
113. Dror Y, Freedman MH Shwachman-Diamond syndrome marrow cells show abnormally increased aptosis mediated through Fas pathway. Blood 2001, 97:3011-3016.
114. Winkelstein JA, Marino MC, Johnston RB, et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine 2000, 79:155-169.
115. Seger RA, Gungor T, Belohradsky BH, et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood 2002, 13:4344-4350.
116. Horwitz ME, Barrett J, Brown MR, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med 2001, 344:881-888.
117. Gungor T, Halter J, Klink A, et al. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation 2005, 79:1596-1606.
118. Loy TS, Diaz-Arias AA, Perry MC Familial erythrophagocytic lymphohistiocytosis. Semin Oncol 1991, 18:34-39.
119. Henter J, Elinder G, Ost A Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL study group of the Histiocyte Society. Semin Oncol 1991, 18:29-33.
120. Filipovich AH Hemophagocytic lymphohistiocytosis: a lethal disorder of immune regulation. J Pediatr 1997, 130:337-338.
121. Arico M, Danesino C, Pende D, Moretta L Pathogenesis of hemophagocytic lymphohistiocytosis. Br J Haematol 2001, 114:761-769.
122. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999, 286:1957-1959.
123. Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 2003, 115:461-473.
124. Henter J, Samuelsson-Horne A, Arico A, et al. Treament of hemophagocytic lymphohistiocytosis with HLH 94 immunochemotherapy and bone marrow transplantation. Blood 2002, 100:2367-2373.
125. Stefan JL, Donadieu J, Ledeist F, et al. Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids and cyclosporin A. Blood 1993, 82:2319-2323.
126. Horne AC, Janka G, Maarten Egeler R, et al. Hematopoietic stem cell transplantation on hemophagocytic lymphohistiocytosis. Br J Haematol 2005, 129:622-630.
127. Ouachee-Chardin M, Elie C, de Saint Basile G, et al. Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics 2006, 117:e743-750.
128. Barak Y, Nir E Chediak-Higashi syndrome. Am J Hematol/Oncol 1987, 9:42-55.
129. Pettit RE, Berdal KG Chediak-Higashi syndrome. Neurologic appearance. Arch Neurol 1984, 41:1001-1002.
130. Grossi CE, Crist WM, Abo T, et al. Expression of the Chediak-Higashi lysosomal abnormality in human peripheral blood lymphocytes subpopulations. Blood 1985, 65:837-844.
131. Certain S, Barrat F, Pastural E, et al. Protein truncation test of LYST reveals heterogeneous mutations in patients with Chediak-Higashi Syndrome. Blood 2000, 95:979-983.
132. Tardieu M, Lacroix C, Navern B, et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi Syndrome. Blood 2005, 106:40-42.
133. Griscelli C, Durandy A, Guy-Grand D, et al. A syndrome associating partial albinism and immunodeficiency. Am J Med 1978, 65:691-702.
134. Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 1997, 16:289-292.
135. Ménasché G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with hemophagocytic syndrome. Nat Genet 2000, 25:173-176.
136. Trigg ME, Schugar R Chediak-Higashi syndrome hematopoietic chimerism corrects genetic defect. Bone Marrow Transplant 2001, 27:1211-1213.
137. Benkerrou M, Le Deist F, de Villartay JP, et al. Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation. Eur J Immunol 1997, 8:2043-2047.
138. Baud O, Goulet O, Canioni D, et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001, 344:1758-1762.
139. Dale DC, Bonilla MA, Davis MW, et al. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood 1993, 81:2496-2502.
140. Rosenberg PS, Alter BP, Bolyard AA, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006, 107:4628-4635.
141. Marciano BE, Wesley R, de Carlo ES, et al. Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis 2004, 39:692-699.
142. International Chronic Granulomatous Disease Cooperative Study Group A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med 1991, 324:509-516.
143. Hershfield MS, Buckley RH, Greenberg ML, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med 1987, 316:589-596.
144. Hershfield MS PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. Clin Immunol Immunopathol 1995, 76:S228-232.
145. Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient Severe Combined Immunodeficiency (SCID). Clin Immunol 2005, 117:133-143.
146. Hacein-Bey-Abina S, Le Deist F, Carlier F, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 2002, 346:1185-1193.
147. Gaspar HB, Parsley KL, Howe S, et al. Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 2004, 364:2181-2187.
148. Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science 1995, 270:475-480.
149. Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients. Science 1995, 270:470-475.
150. Kohn DB, Weinberg KI, Nolta JA, et al. Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat Med 1995, 1:1017-1023.
151. Hoogerbrugge PM, van Beusechem VW, Fischer A, et al. Bone marrow gene transfer in three patients with adenosine deaminase deficiency. Gene Ther 1996, 3:179-183.
152. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002, 296:2410-2413.
153. Ott MG, Schmidt M, Schwarzwaelder K, et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 2006, 12:401-409.
154. Hacein-Bey-Abina S, von Kalle C, Schmidt M, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003, 302:415-419.
155. Markert L, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 1999, 341:1180-1189.
156. Markert ML, Sarzotti M, Ozaki DA, et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood 2003, 102:1121-1130.
157. Flake AW, Roncarolo MG, Puck JM, et al. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow [see comments]. N Engl J Med 1996, 335:1806-1810.
158. Wengler GS, Lanfranchi A, Frusca T, et al. In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI). Lancet 1996, 348:1484-1487.
159. Pirovano S, Notarangelo LD, Malacarne F, et al. Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic output. Haematologica 2004, 89:450-461.