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Published in: Indian Journal of Pediatrics 5/2016

01-05-2016 | Review Article

Hematopoietic Stem Cell Transplantation for Primary Immune Deficiency Disorders

Authors: Neena Kapoor, Revathi Raj

Published in: Indian Journal of Pediatrics | Issue 5/2016

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Abstract

Hematopoietic stem cell transplantation provides a curative option for children with primary immune deficiency disorders. Increased awareness and rapid diagnosis of these conditions has resulted in early referral and the chance to offer a curative option for affected children. Management of these children involves a multidisciplinary team including infectious disease specialists and intensivists. The use of reduced intensity conditioning chemotherapy, advances in detection and therapy of viral and fungal infections, optimal supportive care and techniques in stem cell processing, including T cell depletion has enabled doctors to transplant children with co-morbid conditions and no matched donors. Transplantation for these children has also brought in deep insights into the world of immunology and infectious diseases.
Literature
1.
go back to reference Gatti R, Meuwissen H, Allen H, Hong R, Good R. Imunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968;2:1366–9.CrossRefPubMed Gatti R, Meuwissen H, Allen H, Hong R, Good R. Imunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968;2:1366–9.CrossRefPubMed
2.
go back to reference Bach FH, Albertini RJ, Joo P, et al. Bone-marrow transplantation in a patient with the Wiskott–Aldrich syndrome. Lancet. 1968;2:1364–6.CrossRefPubMed Bach FH, Albertini RJ, Joo P, et al. Bone-marrow transplantation in a patient with the Wiskott–Aldrich syndrome. Lancet. 1968;2:1364–6.CrossRefPubMed
3.
go back to reference Parkman R, Gelfand EW, Rosen FS, et al. Severe combined immunodeficiency and adenosine deaminase deficiency. N Engl J Med. 1975;292:714–9.CrossRefPubMed Parkman R, Gelfand EW, Rosen FS, et al. Severe combined immunodeficiency and adenosine deaminase deficiency. N Engl J Med. 1975;292:714–9.CrossRefPubMed
4.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
5.
go back to reference 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;61:341–8.PubMed 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;61:341–8.PubMed
6.
go back to reference Kapoor N, Kirkpatrick D, Blaese RM, et al. Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide. Blood. 1981;57:692–6.PubMed Kapoor N, Kirkpatrick D, Blaese RM, et al. Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide. Blood. 1981;57:692–6.PubMed
7.
go back to reference Fischer A, Haddad E, Jabado N, et al. Stem cell transplantation for immunodeficiency. Semin Immunopathol. 1998;19:479–92.CrossRef Fischer A, Haddad E, Jabado N, et al. Stem cell transplantation for immunodeficiency. Semin Immunopathol. 1998;19:479–92.CrossRef
8.
go back to reference Gennery AR, Slatter MA, Grandin L, 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;126:602–10.CrossRefPubMed Gennery AR, Slatter MA, Grandin L, 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;126:602–10.CrossRefPubMed
9.
go back to reference Worth AJ, Booth C, Veyes P. Stem cell transplantation for primary immunodeficiency. Curr Opin Hematol. 2013;20:501–8.CrossRefPubMed Worth AJ, Booth C, Veyes P. Stem cell transplantation for primary immunodeficiency. Curr Opin Hematol. 2013;20:501–8.CrossRefPubMed
10.
go back to reference Pai SSY, Cowan MJ. Stem cell transplantation for primary immunodeficiency diseases: the North American experience. Curr Opin Allergy Clin Immunol. 2014;14:521–6.CrossRefPubMedPubMedCentral Pai SSY, Cowan MJ. Stem cell transplantation for primary immunodeficiency diseases: the North American experience. Curr Opin Allergy Clin Immunol. 2014;14:521–6.CrossRefPubMedPubMedCentral
11.
go back to reference Rousso SZ, Shamriz O, Zilkha A, et al. Hematopoietic stem cell transplantation for primary immune deficiencies: 3 decades of experience from a tertiary medical center. J Pediatr Hematol Oncol. 2015;37:e295–300.CrossRefPubMed Rousso SZ, Shamriz O, Zilkha A, et al. Hematopoietic stem cell transplantation for primary immune deficiencies: 3 decades of experience from a tertiary medical center. J Pediatr Hematol Oncol. 2015;37:e295–300.CrossRefPubMed
12.
go back to reference Kwan A, Church JA, Cowan MJ, et al. Newborn screening for SCID and T cell lymphopenia in california: results of the first two years. J Allergy Clin Immunol. 2013;132:140–50.CrossRefPubMedPubMedCentral Kwan A, Church JA, Cowan MJ, et al. Newborn screening for SCID and T cell lymphopenia in california: results of the first two years. J Allergy Clin Immunol. 2013;132:140–50.CrossRefPubMedPubMedCentral
13.
14.
go back to reference Pai SY, Logan B, Griffith LM, et al. Transplantation of severe combined immunodeficiency in 240 patients from 2000–2009. N Engl J Med. 2014;371:434–6.CrossRefPubMedPubMedCentral Pai SY, Logan B, Griffith LM, et al. Transplantation of severe combined immunodeficiency in 240 patients from 2000–2009. N Engl J Med. 2014;371:434–6.CrossRefPubMedPubMedCentral
15.
go back to reference Ochs HD, Slichter SJ, Harker LA, et al. The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood. 1980;55:243–52.PubMed Ochs HD, Slichter SJ, Harker LA, et al. The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood. 1980;55:243–52.PubMed
16.
go back to reference Sullivan KE, Mullen CA, Blaese RM, et al. A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125:876–85.CrossRefPubMed Sullivan KE, Mullen CA, Blaese RM, et al. A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125:876–85.CrossRefPubMed
17.
go back to reference Ochs HD, Filipovich A, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15:84–90.CrossRefPubMed Ochs HD, Filipovich A, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15:84–90.CrossRefPubMed
18.
go back to reference Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97:1598–603.CrossRefPubMed Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97:1598–603.CrossRefPubMed
19.
go back to reference Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980–2009: an international collaborative study. Blood. 2011;118:1675–84.CrossRefPubMedPubMedCentral Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980–2009: an international collaborative study. Blood. 2011;118:1675–84.CrossRefPubMedPubMedCentral
20.
go back to reference Shin CR, Kim M-O, Li D, et al. Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. Bone Marrow Transplant. 2012;47:1428–35.CrossRefPubMed Shin CR, Kim M-O, Li D, et al. Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. Bone Marrow Transplant. 2012;47:1428–35.CrossRefPubMed
21.
go back to reference Janeway CA, Cragi J, Davidson M, Downey W, Gitlin D, Sullivan JC. Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am J Dis Child. 1954;88:388–92. Janeway CA, Cragi J, Davidson M, Downey W, Gitlin D, Sullivan JC. Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am J Dis Child. 1954;88:388–92.
22.
go back to reference Berendes H, Bridges RA, Good RA. A fatal granulomatous disease of childhood: the clinical study of a new syndrome. Minn Med. 1957;40:309–12.PubMed Berendes H, Bridges RA, Good RA. A fatal granulomatous disease of childhood: the clinical study of a new syndrome. Minn Med. 1957;40:309–12.PubMed
23.
go back to reference Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009;114:3309–15.CrossRefPubMedPubMedCentral Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009;114:3309–15.CrossRefPubMedPubMedCentral
24.
go back to reference Azimi PH, Bodenbender JG, Hintz RL, Kontras SB. Chronic granulomatous disease in three female siblings. JAMA. 1968;206:2865–70.CrossRefPubMed Azimi PH, Bodenbender JG, Hintz RL, Kontras SB. Chronic granulomatous disease in three female siblings. JAMA. 1968;206:2865–70.CrossRefPubMed
25.
go back to reference Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000;79:170–200.CrossRef Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000;79:170–200.CrossRef
26.
go back to reference Holland SM. Chronic granulomatous disease. Hematol Oncol Clin N Am. 2013;27:89–99.CrossRef Holland SM. Chronic granulomatous disease. Hematol Oncol Clin N Am. 2013;27:89–99.CrossRef
27.
go back to reference Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155–69. Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155–69.
28.
go back to reference 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;100:4344–50.CrossRefPubMed 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;100:4344–50.CrossRefPubMed
29.
go back to reference Soncini E, Slatter MA, Jones LB, et al. Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol. 2009;145:73–83.CrossRefPubMed Soncini E, Slatter MA, Jones LB, et al. Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol. 2009;145:73–83.CrossRefPubMed
30.
go back to reference Horwitz ME, Barrett AJ, Brown MR, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and T-cell-depleted hematopoietic allograft. N Engl J Med. 2001;344:881–8.CrossRefPubMed Horwitz ME, Barrett AJ, Brown MR, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and T-cell-depleted hematopoietic allograft. N Engl J Med. 2001;344:881–8.CrossRefPubMed
31.
go back to reference Mehta B, Mahadeo KM, Shah AJ, Kapoor N, Abdel-Azim H. Improved outcomes after reduced intensity conditioning matched unrelated donor hematopoietic stem cell transplantation in children with chronic granulomatous disease. Blood. 2013;122:2272. Mehta B, Mahadeo KM, Shah AJ, Kapoor N, Abdel-Azim H. Improved outcomes after reduced intensity conditioning matched unrelated donor hematopoietic stem cell transplantation in children with chronic granulomatous disease. Blood. 2013;122:2272.
32.
go back to reference Balashov D, Shcherbina A, Maschan M. Single-center experience of unrelated and haploidentical stem cell transplantation with TCRαβ and CD19 depletion in children with primary immunodeficiency syndromes. Biol Blood Marrow Transplant. 2015;21:1955–62.CrossRefPubMed Balashov D, Shcherbina A, Maschan M. Single-center experience of unrelated and haploidentical stem cell transplantation with TCRαβ and CD19 depletion in children with primary immunodeficiency syndromes. Biol Blood Marrow Transplant. 2015;21:1955–62.CrossRefPubMed
34.
go back to reference Qasim W, Gennery AR. Gene therapy for primary immunodeficiencies: current status and future prospects. Drugs. 2014;74:963–9.CrossRefPubMed Qasim W, Gennery AR. Gene therapy for primary immunodeficiencies: current status and future prospects. Drugs. 2014;74:963–9.CrossRefPubMed
35.
go back to reference Candotti F, Shaw KL, Muul L, et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood. 2012;120:3635–46.CrossRefPubMedPubMedCentral Candotti F, Shaw KL, Muul L, et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood. 2012;120:3635–46.CrossRefPubMedPubMedCentral
36.
go back to reference Schwarzwaelder K, Howe SJ, Schmidt M, et al. Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo. J Clin Invest. 2007;117:2241–9.CrossRefPubMedPubMedCentral Schwarzwaelder K, Howe SJ, Schmidt M, et al. Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo. J Clin Invest. 2007;117:2241–9.CrossRefPubMedPubMedCentral
Metadata
Title
Hematopoietic Stem Cell Transplantation for Primary Immune Deficiency Disorders
Authors
Neena Kapoor
Revathi Raj
Publication date
01-05-2016
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 5/2016
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-015-2012-z

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