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Erschienen in: Immunologic Research 1-3/2011

01.04.2011

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

verfasst von: Rebecca H. Buckley

Erschienen in: Immunologic Research | Ausgabe 1-3/2011

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Abstract

Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T- and B-cell function and, in some types, also of NK cells and function. Mutations in thirteen different genes have been found to cause this condition, which is uniformly fatal in the first 2 years of life unless immune reconstitution can be accomplished. In the 42 years since the first bone marrow transplant was given in 1968, the standard treatment for all forms of SCID has been allogeneic bone marrow transplantation. Both HLA-identical unfractionated and T-cell-depleted HLA-haploidentical bone marrow transplants have been very successful in effecting immune reconstitution, especially if performed in the first 3.5 months of life and without pre-transplant chemotherapy. This paper summarizes the longterm outcome, according to molecular type, of 166 consecutive SCID infants given non-conditioned related donor bone marrow transplants at this institution over the past 28.3 years and reviews published reports of longterm outcomes of transplants in SCID performed at other centers.
Literatur
1.
Zurück zum Zitat Glanzmann E, Riniker P. Essentielle lymphocytophtose. Ein neues krankeitsbild aus der Sauglingspathologie. Ann Paediat. 1950;174:1–5. Glanzmann E, Riniker P. Essentielle lymphocytophtose. Ein neues krankeitsbild aus der Sauglingspathologie. Ann Paediat. 1950;174:1–5.
2.
Zurück zum Zitat Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995;270:797–800.PubMedCrossRef Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995;270:797–800.PubMedCrossRef
3.
Zurück zum Zitat Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(−)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20(4):394–7.PubMedCrossRef Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(−)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20(4):394–7.PubMedCrossRef
4.
Zurück zum Zitat Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, et al. RAG mutations in human B cell-negative SCID. Science. 1996;274:97–9.PubMedCrossRef Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, et al. RAG mutations in human B cell-negative SCID. Science. 1996;274:97–9.PubMedCrossRef
5.
Zurück zum Zitat Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell. 2001;105(2):177–86.PubMedCrossRef Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell. 2001;105(2):177–86.PubMedCrossRef
6.
Zurück zum Zitat Kung C, Pingel JT, Heikinheimo M, Klemola T, Varkila K, Yoo LI, et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med. 2000;6(3):343–5.PubMedCrossRef Kung C, Pingel JT, Heikinheimo M, Klemola T, Varkila K, Yoo LI, et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med. 2000;6(3):343–5.PubMedCrossRef
7.
Zurück zum Zitat Buck D, Moshous D, de Chasseval R, Ma Y, Le Deist F, Cavazzana-Calvo M, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36(1):224–35.PubMedCrossRef Buck D, Moshous D, de Chasseval R, Ma Y, Le Deist F, Cavazzana-Calvo M, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36(1):224–35.PubMedCrossRef
8.
Zurück zum Zitat van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, et al. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest. 2009;119(1):91–8.PubMed van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, et al. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest. 2009;119(1):91–8.PubMed
9.
Zurück zum Zitat Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med. 2003;349(19):1821–8.PubMedCrossRef Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med. 2003;349(19):1821–8.PubMedCrossRef
10.
Zurück zum Zitat de Saint Basile G, Geissmann F, Flori E, Uring-Lambert B, Soudais C, Cavazzana-Calvo M, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004;114(10):1512–7.PubMed de Saint Basile G, Geissmann F, Flori E, Uring-Lambert B, Soudais C, Cavazzana-Calvo M, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004;114(10):1512–7.PubMed
11.
Zurück zum Zitat Roberts JL, Lauritsen JHP, Cooney M, Parrott RE, Sajaroff EO, Win CM, et al. T-B+NK+severe combined immunodeficiency caused by complete deficiency of the CD3 zeta subunit of the T cell antigen receptor complex. Blood. 2007;109:3198–206.PubMedCrossRef Roberts JL, Lauritsen JHP, Cooney M, Parrott RE, Sajaroff EO, Win CM, et al. T-B+NK+severe combined immunodeficiency caused by complete deficiency of the CD3 zeta subunit of the T cell antigen receptor complex. Blood. 2007;109:3198–206.PubMedCrossRef
12.
Zurück zum Zitat Amos DB, Bach FH. Phenotypic expressions of the major histocompatibility locus in man (HL-A): leukocyte antigens and mixed leukocyte culture reactivity. J Exp Med. 1968;128:623–37.PubMedCrossRef Amos DB, Bach FH. Phenotypic expressions of the major histocompatibility locus in man (HL-A): leukocyte antigens and mixed leukocyte culture reactivity. J Exp Med. 1968;128:623–37.PubMedCrossRef
13.
Zurück zum Zitat Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968;2:1366–9.PubMedCrossRef Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968;2:1366–9.PubMedCrossRef
14.
Zurück zum Zitat Bortin MM, Rimm AA. Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation. JAMA. 1977;238:591–600.PubMedCrossRef Bortin MM, Rimm AA. Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation. JAMA. 1977;238:591–600.PubMedCrossRef
15.
Zurück zum Zitat Muller-Ruchholtz W, Wottge HU, Muller-Hermelink HK. Bone marrow transplantation in rats across strong histocompatibility barriers by selective elimination of lymphoid cells in donor marrow. Transpl Proc. 1976;8:537–41. Muller-Ruchholtz W, Wottge HU, Muller-Hermelink HK. Bone marrow transplantation in rats across strong histocompatibility barriers by selective elimination of lymphoid cells in donor marrow. Transpl Proc. 1976;8:537–41.
16.
Zurück zum Zitat Reisner Y, Itzicovitch L, Meshorer A, Sharon N. Hematopoietic stem cell transplantation using mouse bone marrow and spleen cells fractionated by lectins. Proc Nat Acad Sci USA. 1978;75:2933–6.PubMedCrossRef Reisner Y, Itzicovitch L, Meshorer A, Sharon N. Hematopoietic stem cell transplantation using mouse bone marrow and spleen cells fractionated by lectins. Proc Nat Acad Sci USA. 1978;75:2933–6.PubMedCrossRef
17.
Zurück zum Zitat Reisner Y, Kapoor N, Kirkpatrick D, Pollack MS, Cunningham-Rundles S, Dupont B, 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;61:341–8.PubMed Reisner Y, Kapoor N, Kirkpatrick D, Pollack MS, Cunningham-Rundles S, Dupont B, 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;61:341–8.PubMed
18.
Zurück zum Zitat Friedrich W, Goldmann SF, Ebell W, Blutters-Sawatzki R, Gaedecke G, Raghavachar A, et al. Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors. Eur J Pediatr. 1985;144:125–30.PubMedCrossRef Friedrich W, Goldmann SF, Ebell W, Blutters-Sawatzki R, Gaedecke G, Raghavachar A, et al. Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors. Eur J Pediatr. 1985;144:125–30.PubMedCrossRef
19.
Zurück zum Zitat Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, et al. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol. 1986;136:2398–407.PubMed Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, et al. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol. 1986;136:2398–407.PubMed
20.
Zurück zum Zitat O’Reilly RJ, Brochstein J, Collins N, Keever C, Kapoor N, Kirkpatrick D, et al. Evaluation of HLA-haplotype disparate parental marrow grafts depleted of T lymphocytes by differential agglutination with a soybean lectin and E rosette depletion for the treatment of severe combined immunodeficiency. Vox Sang. 1986;51:81–6.PubMedCrossRef O’Reilly RJ, Brochstein J, Collins N, Keever C, Kapoor N, Kirkpatrick D, et al. Evaluation of HLA-haplotype disparate parental marrow grafts depleted of T lymphocytes by differential agglutination with a soybean lectin and E rosette depletion for the treatment of severe combined immunodeficiency. Vox Sang. 1986;51:81–6.PubMedCrossRef
21.
Zurück zum Zitat Moen RC, Horowitz SD, Sondel PM, Borcherding WR, Trigg ME, Billing R, et al. Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. Blood. 1987;70:664–9.PubMed Moen RC, Horowitz SD, Sondel PM, Borcherding WR, Trigg ME, Billing R, et al. Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. Blood. 1987;70:664–9.PubMed
22.
Zurück zum Zitat O’Reilly RJ, Keever CA, Small TN, Brochstein J. The use of HLA-non-identical T-cell-depleted marrow transplants for correction of severe combined immunodeficiency disease. Immunodefic Rev. 1989;1(4):273–309.PubMed O’Reilly RJ, Keever CA, Small TN, Brochstein J. The use of HLA-non-identical T-cell-depleted marrow transplants for correction of severe combined immunodeficiency disease. Immunodefic Rev. 1989;1(4):273–309.PubMed
23.
Zurück zum Zitat Wijnaendts L, LeDeist F, Griscelli C, Fischer A. Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency. Blood. 1989;74:2212–9.PubMed Wijnaendts L, LeDeist F, Griscelli C, Fischer A. Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency. Blood. 1989;74:2212–9.PubMed
24.
Zurück zum Zitat Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, et al. European experience of bone marrow transplantation for severe combined immunodeficiency. Lancet. 1990;336:850–4.PubMedCrossRef Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, et al. European experience of bone marrow transplantation for severe combined immunodeficiency. Lancet. 1990;336:850–4.PubMedCrossRef
25.
Zurück zum Zitat Dror Y, Gallagher R, Wara DW, Colombe BW, Merino A, Benkerrou M, et al. Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T cell depleted haplocompatible bone marrow transplantation. Blood. 1993;81:2021–30.PubMed Dror Y, Gallagher R, Wara DW, Colombe BW, Merino A, Benkerrou M, et al. Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T cell depleted haplocompatible bone marrow transplantation. Blood. 1993;81:2021–30.PubMed
26.
Zurück zum Zitat Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, de Saint-Basile G, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 cases. J Pediatr. 1993;123:564–72.PubMedCrossRef Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, de Saint-Basile G, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 cases. J Pediatr. 1993;123:564–72.PubMedCrossRef
27.
Zurück zum Zitat Giri N, Vowels M, Ziegler JB, Ford D, Lam-Po-Tang R. HLA non-identical T-cell-depleted bone marrow transplantation for primary immunodeficiency diseases. Aust N Z J Med. 1994;24(1):26–30.PubMed Giri N, Vowels M, Ziegler JB, Ford D, Lam-Po-Tang R. HLA non-identical T-cell-depleted bone marrow transplantation for primary immunodeficiency diseases. Aust N Z J Med. 1994;24(1):26–30.PubMed
28.
Zurück zum Zitat Buckley RH. Bone marrow transplantation in primary immunodeficiency. In: Rich RR, editor. Clinical immunology: principles and practice. St. Louis: C.V. Mosby; 1995. p. 1813–30. Buckley RH. Bone marrow transplantation in primary immunodeficiency. In: Rich RR, editor. Clinical immunology: principles and practice. St. Louis: C.V. Mosby; 1995. p. 1813–30.
29.
Zurück zum Zitat Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, et al. Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340:508–16.PubMedCrossRef Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, et al. Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340:508–16.PubMedCrossRef
30.
Zurück zum Zitat Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872–8.PubMedCrossRef Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872–8.PubMedCrossRef
31.
Zurück zum Zitat Antoine C, Muller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet. 2003;361:553–60.PubMedCrossRef Antoine C, Muller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet. 2003;361:553–60.PubMedCrossRef
32.
Zurück zum Zitat Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004;55:625–56.CrossRef Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004;55:625–56.CrossRef
33.
Zurück zum Zitat Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126(3):602–10.PubMedCrossRef Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126(3):602–10.PubMedCrossRef
34.
Zurück zum Zitat Schiff SE, Kurtzberg J, Buckley RH. Studies of human bone marrow treated with soybean lectin and sheep erythrocytes: stepwise analysis of cell morphology, phenotype and function. Clin Exp Immunol. 1987;68:685–93.PubMed Schiff SE, Kurtzberg J, Buckley RH. Studies of human bone marrow treated with soybean lectin and sheep erythrocytes: stepwise analysis of cell morphology, phenotype and function. Clin Exp Immunol. 1987;68:685–93.PubMed
35.
Zurück zum Zitat Sarzotti-Kelsoe M, Win CM, Parrott RE, Cooney M, Moser BK, Roberts JL, et al. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood. 2009;114(7):1445–53.PubMedCrossRef Sarzotti-Kelsoe M, Win CM, Parrott RE, Cooney M, Moser BK, Roberts JL, et al. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood. 2009;114(7):1445–53.PubMedCrossRef
36.
Zurück zum Zitat Railey MD, LoKhnygina Y, Buckley RH. Long term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pre-transplant chemotherapy or post-transplant GVHD prophylaxis. J Pediatr. 2009;155:834–40.PubMedCrossRef Railey MD, LoKhnygina Y, Buckley RH. Long term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pre-transplant chemotherapy or post-transplant GVHD prophylaxis. J Pediatr. 2009;155:834–40.PubMedCrossRef
37.
Zurück zum Zitat Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124(6):1161–78.PubMedCrossRef Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124(6):1161–78.PubMedCrossRef
38.
Zurück zum Zitat Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, et al. Human severe combined immunodeficiency (SCID): genetic, phenotypic and functional diversity in 108 infants. J Pediatr. 1997;130:378–87.PubMedCrossRef Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, et al. Human severe combined immunodeficiency (SCID): genetic, phenotypic and functional diversity in 108 infants. J Pediatr. 1997;130:378–87.PubMedCrossRef
39.
Zurück zum Zitat Buckley RH. The multiple causes of human SCID. J Clin Invest. 2004;114(10):1409–11.PubMed Buckley RH. The multiple causes of human SCID. J Clin Invest. 2004;114(10):1409–11.PubMed
40.
Zurück zum Zitat Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147–57.PubMedCrossRef Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147–57.PubMedCrossRef
41.
Zurück zum Zitat Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993;2:1099–104.PubMedCrossRef Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993;2:1099–104.PubMedCrossRef
42.
Zurück zum Zitat Puck JM. Molecular and genetic basis of X-linked immunodeficiency disorders. J Clin Immunol. 1994;14:81–9.PubMedCrossRef Puck JM. Molecular and genetic basis of X-linked immunodeficiency disorders. J Clin Immunol. 1994;14:81–9.PubMedCrossRef
43.
Zurück zum Zitat Macchi P, Villa A, Gillani S, Sacco MG, Frattini A, Porta F, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature. 1995;377:65–8.PubMedCrossRef Macchi P, Villa A, Gillani S, Sacco MG, Frattini A, Porta F, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature. 1995;377:65–8.PubMedCrossRef
44.
Zurück zum Zitat Roberts JL, Lengi A, Brown SM, Chen M, Zhou Y-J, O’Shea JJ, et al. Janus Kinase 3 (JAK3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. 2004;103:209–18.CrossRef Roberts JL, Lengi A, Brown SM, Chen M, Zhou Y-J, O’Shea JJ, et al. Janus Kinase 3 (JAK3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. 2004;103:209–18.CrossRef
45.
Zurück zum Zitat Hirschhorn R. Immunodeficiency diseases due to deficiency of adenosine deaminase. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases: a molecular and genetic approach. New York and Oxford: Oxford University Press; 1999. p. 121–39. Hirschhorn R. Immunodeficiency diseases due to deficiency of adenosine deaminase. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases: a molecular and genetic approach. New York and Oxford: Oxford University Press; 1999. p. 121–39.
46.
Zurück zum Zitat Przepiorka D, Weisdorf D, Martin P, Klingemann HG, Beatty P, Hows J, et al. Consensus conference on acute GVHD grading. Bone Marrow Transpl. 1995;15:825–8. Przepiorka D, Weisdorf D, Martin P, Klingemann HG, Beatty P, Hows J, et al. Consensus conference on acute GVHD grading. Bone Marrow Transpl. 1995;15:825–8.
47.
Zurück zum Zitat Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009;360(5):447–58.PubMedCrossRef Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009;360(5):447–58.PubMedCrossRef
48.
Zurück zum Zitat Friedman NJ, Schiff SE, Ward FE, Schiff RI, Buckley RH. Graft-versus-graft and graft-versus-host reactions after HLA-identical bone marrow transplantation in a patient with severe combined immunodeficiency with transplacentally acquired lymphoid chimerism. Pediatr Allerg Immunol. 1991;2:111–6.CrossRef Friedman NJ, Schiff SE, Ward FE, Schiff RI, Buckley RH. Graft-versus-graft and graft-versus-host reactions after HLA-identical bone marrow transplantation in a patient with severe combined immunodeficiency with transplacentally acquired lymphoid chimerism. Pediatr Allerg Immunol. 1991;2:111–6.CrossRef
49.
Zurück zum Zitat Patel DD, Gooding ME, Parrott RE, Curtis KM, Haynes BF, Buckley RH. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 2000;342(18):1325–32.PubMedCrossRef Patel DD, Gooding ME, Parrott RE, Curtis KM, Haynes BF, Buckley RH. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 2000;342(18):1325–32.PubMedCrossRef
50.
Zurück zum Zitat Sarzotti M, Patel DD, Li X, Ozaki DA, Cao S, Langdon S, et al. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. J Immunol. 2003;170(5):2711–8.PubMed Sarzotti M, Patel DD, Li X, Ozaki DA, Cao S, Langdon S, et al. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. J Immunol. 2003;170(5):2711–8.PubMed
51.
Zurück zum Zitat Ghory P, Schiff S, Buckley R. Appearance of multiple benign paraproteins during early engraftment of soy lectin T cell-depleted haploidentical bone marrow cells in severe combined immunodeficiency. J Clin Immunol. 1986;6:161–9.PubMedCrossRef Ghory P, Schiff S, Buckley R. Appearance of multiple benign paraproteins during early engraftment of soy lectin T cell-depleted haploidentical bone marrow cells in severe combined immunodeficiency. J Clin Immunol. 1986;6:161–9.PubMedCrossRef
52.
Zurück zum Zitat Kent EF, Crawford J, Cohen HJ, Buckley RH. Development of multiple monoclonal serum immunoglobulins (multiclonal gammopathy) following both HLA-identical unfractionated and T cell-depleted haploidentical bone marrow transplantation in severe combined immunodeficiency. J Clin Immunol. 1990;10:106–14.PubMedCrossRef Kent EF, Crawford J, Cohen HJ, Buckley RH. Development of multiple monoclonal serum immunoglobulins (multiclonal gammopathy) following both HLA-identical unfractionated and T cell-depleted haploidentical bone marrow transplantation in severe combined immunodeficiency. J Clin Immunol. 1990;10:106–14.PubMedCrossRef
53.
Zurück zum Zitat Gerritsen EJA, van Tol MJD, Lankester AC, van der Weijden-Rajas CPM, Jol-van der Zjide CM, Oudeman-Gruber NJ, et al. Immunoglobulin levels and monoclonal gammopathies in children after bone marrow transplantation. Blood. 1993;82:3493–502.PubMed Gerritsen EJA, van Tol MJD, Lankester AC, van der Weijden-Rajas CPM, Jol-van der Zjide CM, Oudeman-Gruber NJ, et al. Immunoglobulin levels and monoclonal gammopathies in children after bone marrow transplantation. Blood. 1993;82:3493–502.PubMed
54.
Zurück zum Zitat Buckley RH. B cell function in severe combined immunodeficiency after stem cell or gene therapy: A review. J Allergy Clin Immunol 2010; 125: in press. Buckley RH. B cell function in severe combined immunodeficiency after stem cell or gene therapy: A review. J Allergy Clin Immunol 2010; 125: in press.
55.
Zurück zum Zitat Haddad E, Landais P, Friedrich W, Gerritsen B, Cavazzana-Calvo M, Morgan G, et al. Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. Blood. 1998;91(10):3646–53.PubMed Haddad E, Landais P, Friedrich W, Gerritsen B, Cavazzana-Calvo M, Morgan G, et al. Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. Blood. 1998;91(10):3646–53.PubMed
56.
Zurück zum Zitat Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, et al. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical T cell-depleted bone marrow transplantation. J Pediatr. 1999;134:740–8.PubMedCrossRef Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, et al. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical T cell-depleted bone marrow transplantation. J Pediatr. 1999;134:740–8.PubMedCrossRef
57.
Zurück zum Zitat O’Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, et al. Bone marrow transplantation for T-B-severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transpl. 2001;27(7):703–9.CrossRef O’Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, et al. Bone marrow transplantation for T-B-severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transpl. 2001;27(7):703–9.CrossRef
58.
Zurück zum Zitat Smogorzewska EM, Brooks J, Annett G, Kapoor N, Crooks GM, Kohn DB, et al. T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency. Arch Immunol Ther Exp (Warsz). 2000;48(2):111–8. Smogorzewska EM, Brooks J, Annett G, Kapoor N, Crooks GM, Kohn DB, et al. T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency. Arch Immunol Ther Exp (Warsz). 2000;48(2):111–8.
59.
Zurück zum Zitat Borghans JA, Bredius RG, Hazenberg MD, Roelofs H, Jol-van der Zijde EC, Heidt J, et al. Early determinants of long-term T-cell reconstitution after hematopoietic stem cell transplantation for severe combined immunodeficiency. Blood. 2006;108(2):763–9.PubMedCrossRef Borghans JA, Bredius RG, Hazenberg MD, Roelofs H, Jol-van der Zijde EC, Heidt J, et al. Early determinants of long-term T-cell reconstitution after hematopoietic stem cell transplantation for severe combined immunodeficiency. Blood. 2006;108(2):763–9.PubMedCrossRef
60.
Zurück zum Zitat Cavazzana-Calvo M, Carlier F, Le Deist F, Morillon E, Taupin P, Gautier D, et al. Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype. Blood. 2007;109(10):4575–81.PubMedCrossRef Cavazzana-Calvo M, Carlier F, Le Deist F, Morillon E, Taupin P, Gautier D, et al. Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype. Blood. 2007;109(10):4575–81.PubMedCrossRef
61.
Zurück zum Zitat Mazzolari E, Forino C, Guerci S, Imberti L, Lanfranchi A, Porta F, et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol. 2007;120(4):892–9.PubMedCrossRef Mazzolari E, Forino C, Guerci S, Imberti L, Lanfranchi A, Porta F, et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol. 2007;120(4):892–9.PubMedCrossRef
62.
Zurück zum Zitat Friedrich W, Honig M, Muller SM. Long-term follow-up in patients with severe combined immunodeficiency treated by bone marrow transplantation. Immunol Res. 2007;38(1–3):165–73.PubMedCrossRef Friedrich W, Honig M, Muller SM. Long-term follow-up in patients with severe combined immunodeficiency treated by bone marrow transplantation. Immunol Res. 2007;38(1–3):165–73.PubMedCrossRef
63.
Zurück zum Zitat Slatter MA, Brigham K, Dickinson AM, Harvey HL, Barge D, Jackson A, et al. Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency. J Allergy Clin Immunol. 2007;121:361–7.PubMedCrossRef Slatter MA, Brigham K, Dickinson AM, Harvey HL, Barge D, Jackson A, et al. Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency. J Allergy Clin Immunol. 2007;121:361–7.PubMedCrossRef
64.
Zurück zum Zitat Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Brown BS, Paul ME, et al. Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. J Allergy Clin Immunol. 2008;122(6):1185–93.PubMedCrossRef Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Brown BS, Paul ME, et al. Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. J Allergy Clin Immunol. 2008;122(6):1185–93.PubMedCrossRef
65.
Zurück zum Zitat Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D et al. Long-term outcome after haematopoietic stem cell transplantation of a single-centre cohort of 90 patients with severe combined immunodeficiency: long-term outcome of HSCT in SCID. Blood. 2009. Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D et al. Long-term outcome after haematopoietic stem cell transplantation of a single-centre cohort of 90 patients with severe combined immunodeficiency: long-term outcome of HSCT in SCID. Blood. 2009.
66.
Zurück zum Zitat Honig M, Albert MH, Schulz A, Sparber-Sauer M, Schutz C, Belohradsky B, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595–602.PubMedCrossRef Honig M, Albert MH, Schulz A, Sparber-Sauer M, Schutz C, Belohradsky B, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595–602.PubMedCrossRef
67.
Zurück zum Zitat Titman P, Pink E, Skucek E, O’Hanlon K, Cole TJ, Gaspar J, et al. Cognitive and behavioural abnormalities in children following haematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008;112:3907–13.PubMedCrossRef Titman P, Pink E, Skucek E, O’Hanlon K, Cole TJ, Gaspar J, et al. Cognitive and behavioural abnormalities in children following haematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008;112:3907–13.PubMedCrossRef
68.
Zurück zum Zitat Clement-De Boers A, Oostdijk W, Van Weel-Sipman MH, Van den Broeck J, Wit JM, Vossen JM. Final height and hormonal function after bone marrow transplantation in children. J Pediatr. 1996;129:544–50.PubMedCrossRef Clement-De Boers A, Oostdijk W, Van Weel-Sipman MH, Van den Broeck J, Wit JM, Vossen JM. Final height and hormonal function after bone marrow transplantation in children. J Pediatr. 1996;129:544–50.PubMedCrossRef
69.
Zurück zum Zitat Barrett MJ, Buckley RH, Schiff SE, Kidd PC, Ward FE. Accelerated development of immunity following transplantation of maternal marrow stem cells into infants with severe combined immunodeficiency and transplacentally acquired lymphoid chimerism. Clin Exp Immunol. 1988;72:118–23.PubMed Barrett MJ, Buckley RH, Schiff SE, Kidd PC, Ward FE. Accelerated development of immunity following transplantation of maternal marrow stem cells into infants with severe combined immunodeficiency and transplacentally acquired lymphoid chimerism. Clin Exp Immunol. 1988;72:118–23.PubMed
70.
Zurück zum Zitat Kurtzberg J, Laughlin M, Graham ML, Smith C, Olson JF, Halperin EC, et al. Placental blood as a source of hematopoietic stem cells for transplantation into unrelated recipients. New Engl J Med. 1996;335(3):157–66.PubMedCrossRef Kurtzberg J, Laughlin M, Graham ML, Smith C, Olson JF, Halperin EC, et al. Placental blood as a source of hematopoietic stem cells for transplantation into unrelated recipients. New Engl J Med. 1996;335(3):157–66.PubMedCrossRef
71.
Zurück zum Zitat Gluckman E, Rocha V, Boyer-Chammard A, Locatelli F, Arcese W, Pasquini R, et al. Outcome of cord blood transplantation from related and unrelated donors. New Engl J Med. 1997;337:373–81.PubMedCrossRef Gluckman E, Rocha V, Boyer-Chammard A, Locatelli F, Arcese W, Pasquini R, et al. Outcome of cord blood transplantation from related and unrelated donors. New Engl J Med. 1997;337:373–81.PubMedCrossRef
72.
Zurück zum Zitat Knutsen AP, Wall DA. Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience. J Clin Immunol. 2000;20(6):466–76.PubMedCrossRef Knutsen AP, Wall DA. Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience. J Clin Immunol. 2000;20(6):466–76.PubMedCrossRef
73.
Zurück zum Zitat Flake AW, Roncarolo MG, Puck JM, Almeida-Porada G, Evans MI, Johnson MP, et al. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med. 1996;335:1806–10.PubMedCrossRef Flake AW, Roncarolo MG, Puck JM, Almeida-Porada G, Evans MI, Johnson MP, et al. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med. 1996;335:1806–10.PubMedCrossRef
74.
Zurück zum Zitat Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, Brugnoni D, et al. In utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1). Lancet. 1996;348:1484–7.PubMedCrossRef Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, Brugnoni D, et al. In utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1). Lancet. 1996;348:1484–7.PubMedCrossRef
Metadaten
Titel
Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes
verfasst von
Rebecca H. Buckley
Publikationsdatum
01.04.2011
Verlag
Humana Press Inc
Erschienen in
Immunologic Research / Ausgabe 1-3/2011
Print ISSN: 0257-277X
Elektronische ISSN: 1559-0755
DOI
https://doi.org/10.1007/s12026-010-8191-9

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