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Published in:

01-07-2007

Matched unrelated bone marrow transplant for severe combined immunodeficiency

Authors: Chaim M. Roifman, Eyal Grunebaum, Ilan Dalal, Luigi Notarangelo

Published in: Immunologic Research | Issue 1-3/2007

Abstract

Severe combined immunodeficiency (SCID) is a lethal disease unless allogeneic bone marrow transplantation (BMT), preferably from a family related HLA identical donor (RID) is given. Previously, some patients received HLA-mismatched related donors (MMRD) BMT, which often resulted in slow immune reconstitution and variable survival. Alternatively, HLA-matched unrelated donors (MUD) BMT have been suggested. Recently, we have directly compared outcome of patients with SCID who received either MMRD or MUD BMT. Survival after MUD BMT was significantly better than after MMRD BMT. Patients who received MUD BMT also had better engraftment of donor cells and immune reconstitution. Recent reports from other centers confirm these results finding that MUD BMT provides excellent survival and better immune reconstitution for patients with SCID. In conclusion, MUD BMT appears vastly superior to MMRD BMT and should be offered as first choice of treatment for patients with SCID when RID is unavailable.

Huang H, Manton KG. Newborn screening for severe combined immunodeficiency (SCID): a review. Front Biosci 2005;10:1024–39.PubMedCrossRef

Fischer A, Landais P, Friedrich W, et al. European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet 1990;336:850–4.PubMedCrossRef

Haddad E, Landais P, Friedrich W, 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;91:3646–53.PubMed

Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004;22:625–55.PubMedCrossRef

Antoine C, Muller S, Cant A, 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

Caillat-Zucman S, Le Deist F, Haddad E, et al. Impact of HLA matching on outcome of hematopoietic stem cell transplantation in children with inherited diseases: a single-centre comparative analysis of genoidentical, haploidentical or unrelated donors. Bone Marrow Transplant 2004;33:1089–95.PubMedCrossRef

Cavazzana-Calvo M, Andre-Schmutz I, Hacein-Bey-Abina S, Bensoussan D, Le Deist F, Fischer A. Improving immune reconstitution while preventing graft-versus-host disease in allogeneic stem cell transplantation. Semin Hematol 2002;39:32–40.PubMedCrossRef

Amrolia PJ, Muccioli-Casadei G, Yvon E, et al. Selective depletion of donor alloreactive T cells without loss of antiviral or antileukemic responses. Blood 2003; 102:2292–9.PubMedCrossRef

Ball LM, Lankester AC, Bredius RG, Fibbe WE, van Tol MJ, Egeler RM. Graft dysfunction and delayed immune reconstitution following haploidentical peripheral blood hematopoietic stem cell transplantation. Bone Marrow Transplant 2005;35(suppl 1):S35–8.PubMedCrossRef

10.

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;342:1325–32.PubMedCrossRef

11.

Arpaia E, Shahar M, Dadi H, et al. Defective T cell receptor signaling and CD8⁺ thymic selection in humans lacking Zap-70 kinase. Cell 1994;76:947–58.PubMedCrossRef

12.

Sharfe N, Dadi HK, Shahar M, et al. Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor. Proc Natl Acad Sci U S A 1997;94:3168–71.PubMedCrossRef

13.

Alarcon B, Regueiro JR, Arnaiz-Villena A, et al. familial defect in the surface of expression of the T-cell receptor CD3 complex. New Engl J Med 1988;319:1203–8.PubMedCrossRef

14.

Sharfe N, Shahar M, Roifman CM. An interleukin-2 receptor γ chain mutation with normal thymus morphology. J Clin Invest 1997;100:3036–3043. December 7, 2006 15.PubMedCrossRef

15.

Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Perez C, et al. Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma©-JAK3 signaling pathway as a model. Immunol Rev 2000;178:39–48.PubMedCrossRef

16.

Somech R, Roifman CM. Mutation analysis should be performed to rule out γc deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests. J Pediatr 2005;147:555–7.PubMedCrossRef

17.

Roifman CM. Studies of Patients’ Thymi aid in the discovery and characterization of immunodeficiency in humans. In: Koretzky G, Monroe J, editors. Immunological reviews. Vol. 203. Singapore: Blackwell Munksguard; 2005. p. 143–55.

18.

Zhang J, Quintal L, Atkinson A, Williams B, Grunebaum E, Roifman CM. Novel RAG1 mutation in a case of severe combined immunodeficiency. Pediatrics 2005;116:e445–59.PubMedCrossRef

19.

Roifman CM, Gu Y, Cohen A. Mutations in the RNA component of Rnase MRP cause Omenn Syndrome. J Allergy Clin Immunol 2006; 117:897–903.PubMedCrossRef

20.

Hirschhorn R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res 1993;3(Suppl):S35–41.CrossRef

21.

Fischer A, Griscelli F, Friedrich W, et al. Bone marrow transplantation for immunodeficiencies and osteopetrosis: European survey: 1968–1985. Lancet 1986;2:1080–3.PubMedCrossRef

22.

O’Reilly RJ, Dupont B, Pahwa S, et al. Reconstitution in severe combined immunodeficiency by transplantation of marrow from an unrelated donor. N Engl J Med 1977;297:1311–8.PubMedCrossRef

23.

Dalal I, Reid B, Doyle J, et al. Matched unrelated bone marrow transplantation for combined immunodeficiency. Bone Marrow Transplant 2000;25:613–21.PubMedCrossRef

24.

Filipovich AH, Shapiro RS, Ramsay NK, et al. Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies. Blood 1992;80:270–6.PubMed

25.

Buckley RH, Schiff SE, Schiff RI, et al. hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 1999;340:508–16.PubMedCrossRef

26.

Buckley RH. Advances in the understanding and treatment of human severe combined immunodeficiency. Immunol Res 2000;22:237–51.PubMedCrossRef

27.

Barker JN, Krepski TP, DeFor TE, Davies SM, Wagner JE, Weisdorf DJ. Searching for unrelated donor hematopoietic stem cells: availability and speed of umbilical cord blood versus bone marrow. Biol Blood Marrow Transplant 2002;8:257–60.PubMedCrossRef

28.

Anasetti C, Petersdorf EW, Martin PJ, Woolfrey A, Hansen JA. Trends in transplantation of hematopoietic stem cells from unrelated donors. Curr Opin Hematol 2001;8:337–41.PubMedCrossRef

29.

Stroncek D, Bartsch G, Perkins HA, Randall BL, Hansen JA, McCullough J. The National Marrow Donor Program. Transfusion 1993;33:567–77.PubMedCrossRef

30.

Tiercy JM, Bujan-Lose M, Chapuis B, et al. Bone marrow transplantation with unrelated donors: what is the probability of identifying and HLA-A/B/CwDRB1/B3/B5/DQB1-matched donor?. Bone Marrow Transplant 2000;26:437–41.PubMedCrossRef

31.

Candusso M, Faraguna D, Landini P. Artificial nutrition and bone marrow transplantation. Haematologica 2000;85:58–61.PubMed

32.

Drobyski WR, Klein J, Fmomeberg N, et al. Superior survival associated with transplantation of matched unrelated versus one-antigen-disparate haploidentical family donor marrow grafts for the treatment of hematologic malignancies: establishing a treatment algorithm for recipients of alternative donor grafts. Blood 2002;99:806–14.PubMedCrossRef

33.

Lanfranchi A, Verardi R, Tettoni K, et al. Haploidentical peripheral blood and marrow stem cell transplantation in nine cases of primary immunodeficiency. Haematologica 2000;85:41–6.PubMed

34.

Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo L, Roifman CM. Bone Marrow transplantation for severe combined immune deficiency. JAMA 2006;295:508–18.PubMedCrossRef

Title: Matched unrelated bone marrow transplant for severe combined immunodeficiency
Authors: Chaim M. Roifman
Eyal Grunebaum
Ilan Dalal
Luigi Notarangelo
Publication date: 01-07-2007
Publisher: Humana Press Inc
Published in: Immunologic Research / Issue 1-3/2007
Print ISSN: 0257-277X
Electronic ISSN: 1559-0755
DOI: https://doi.org/10.1007/s12026-007-0042-y

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Matched unrelated bone marrow transplant for severe combined immunodeficiency

Abstract

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Abstract

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