Hematopoetic stem cell transplantation in neutrophil disorders: Severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease

Clinical Reviews in Allergy and Immunology

Volumn 38, Issue 1, 2010, Pages 61-67

  Elhasid, Ronit ^a   Rowe, Jacob M ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

Chronic granulomatous disease; Hematopoietic stem cell transplantation (HSCT); Leukocyte adhesion deficiency; Severe congenital neutropenia

Indexed keywords

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; BLOOD DONOR; CHRONIC GRANULOMATOUS DISEASE; DISEASE SEVERITY; HUMAN; LEUKOCYTE ADHESION DEFICIENCY; NEUTROPENIA; NEUTROPHIL; REVIEW; TOXICITY; TREATMENT INDICATION;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; MALE; NEUTROPENIA; TRANSPLANTATION, HOMOLOGOUS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 75949086263     PISSN: 10800549     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12016-009-8129-y     Document Type: Review

References (55)

1. HL Malech WM Nauseef 1997 Primary inherited defects in neutrophil function: etiology and treatment Semin Hematol 34 279 290 1:CAS:528: DyaK2sXntVClurs%3D 9347578
2. R Kostmann 1956 Infantile genetic agranulocytosis Acta Paediatrica Scandinavica 45 1 78 10.1111/j.1651-2227.1956.tb17668.x 1:STN:280: DyaG28%2FnvV2lug%3D%3D
3. R Kostmann 1975 Infantile genetic agranulocytosis: a review with presentation of ten new cases Acta Paediatrica Scandinavica 64 362 368 10.1111/j.1651-2227.1975.tb03847.x
4. MS Horwitz Z Duan B Korkmaz, et al. 2007 Neutrophil elastase in cyclic and severe congenital neutropenia Blood 109 1817 1824 10.1182/blood-2006-08- 019166 1:CAS:528:DC%2BD2sXjtFeqt78%3D 17053055 (Pubitemid 46348175)
5. C Klein M Grudzien G Appaswamy, et al. 2007 HAX1 deficiency causes autosomal recessive severe CN (Kostmann disease) Nat Genet 39 86 92 10.1038/ng1940 1:CAS:528:DC%2BD28XhtlGktLjJ 17187068 (Pubitemid 46026506)
6. AA Schaffer C Klein 2007 Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 7 481 494 10.1097/ACI.0b013e3282f1d690 17989524 (Pubitemid 350076443)
7. K Welte C Zeidler DC Dale 2006 Severe congenital neutropenia Semin Hematol 43 189 195 10.1053/j.seminhematol.2006.04.004 1:CAS:528: DC%2BD28XotFaktbg%3D 16822461 (Pubitemid 43963504)
8. PS Rosenberg DC Alter BP Link 2007 Neutrophil elastase mutations and risk of leukemia in severe congenital neutropenia Br J Haematol 140 210 213 18028488
9. PS Rosenberg BP Alter AA Bolyard, et al. 2006 Severe Chronic Neutropenia International Registry. The incidence of leukemia and mortality from sepsis in patients with severe CN receivivg long-term G-CSF therapy Blood 107 4628 4635 10.1182/blood-2005-11-4370 1:CAS:528:DC%2BD28XlvFCgsLw%3D 16497969 (Pubitemid 43882607)
10. M Germeshausen M Ballmaier H Schulze, et al. 2001 Granulocyte colony-stimulating factor receptor mutations in a patient with acute lymphoblastic leukemia secondary to severe CN Blood 97 829 830 10.1182/blood.V97.3.829 1:CAS:528:DC%2BD3MXhtVSjt70%3D 11227095 (Pubitemid 32113424)
11. M Germeshausen H Schulze C Kratz, et al. 2005 An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe CN Leukemia 19 611 617 1:CAS:528:DC%2BD2MXjs1Oluro%3D 15729385
12. M Germeshausen M Ballmaier K Welte 2007 Incidence of CSF3R mutations in severe CN and relevance for leukemogenesis: results of a long-term survey Blood 109 93 99 10.1182/blood-2006-02-004275 1:CAS:528:DC%2BD2sXivVyrtLg%3D 16985178 (Pubitemid 46053048)
13. EM Sloand AS Yong S Ramkissoon, et al. 2006 Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor Proc Natl Acad Sci USA 103 14483 14488 10.1073/pnas.0605245103 1:CAS:528:DC%2BD28XhtVOgtr%2FI 16980411 (Pubitemid 44484776)
14. C Zeidler M Germeshausen C Klein K Welre 2009 Clinical implications of ELA2-, HAX1-, and G-CSF- receptor (CSF3R) mutations in severe congenital neutropenia Br J of Haematol 144 459 467 10.1111/j.1365-2141.2008.07425.x 1:CAS:528:DC%2BD1MXjtlehtr4%3D
15. C Zeidler K Welte Y Barak, et al. 2000 Stem cell transplantation in patients with severe CN without evidence of leukemic transformation Blood 95 1195 1198 1:CAS:528:DC%2BD3cXhtFKisbk%3D 10666190
16. C Bellanne-Chantelot S Clauin T Leblanc, et al. 2004 Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register Blood 103 4119 4125 10.1182/blood-2003-10-3518 1:CAS:528:DC%2BD2cXkvVyitrs%3D 14962902 (Pubitemid 38685352)
17. JM Rappeport R Parkman P Newburger, et al. 1980 Correction of infantile agranulocytosis (Kostmann's syndrome) by allogeneic bone marrow transplantation Am J Med 68 605 609 10.1016/0002-9343(80)90312-5 1:STN:280:DyaL3c7nt1Kjsw%3D%3D 6989239
18. S Dallorso C Manzitti P Dodero, et al. 2003 Uneventful outcome of unrelated hematopoietic stem cell transplantation in a patient with leukemic transformation of Kostmann syndrome and long-lasting invasive pulmonary mycosis Eur J Haematol 70 322 325 10.1034/j.1600-0609.2003.00062.x 12694170 (Pubitemid 36560532)
19. H Toyoda E Azuma H Hori, et al. 2001 Successful unrelated BMT in a patient with Kostmann syndrome complicated by pre-transplant pulmonary bacterial abscesses Bone Marrow Transplant 28 413 415 10.1038/sj.bmt.1703156 1:STN:280:DC%2BD3MritlSjug%3D%3D 11571517 (Pubitemid 32834363)
20. MK Markel PR Haut JA Renbarger, et al. 2008 Unrelated cord blood transplantation for severe congenital neutropenia: report of two cases with very different transplant courses Pediatr Transplant 12 896 901 18433408
21. C Ferry M Ouachee T Leblanc, et al. 2005 Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register Bone Marrow Transplant 35 45 50 10.1038/sj.bmt.1704718 1:STN:280:DC%2BD2cnisFCrtA%3D%3D 15489867 (Pubitemid 40090055)
22. SW Choi LA Boxer MA Pulsipher, et al. 2005 Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation Bone Marrow Transplant 35 473 477 10.1038/sj.bmt.1704813 1:STN:280:DC%2BD2M%2FpsFShtA%3D%3D 15640815 (Pubitemid 40403350)
23. IP Touw M Bontenbal 2007 Granulocyte colony-stimulating factor: key factor or innocent bystander in the development of secondary myeloid malignancy? JNCI 99 183 186 1:CAS:528:DC%2BD2sXis1Shtbs%3D 17284707
24. nd ed. Oxford University Press 550-564.
25. N Hogg MP Stewart SL Scarth R Newton JM Shaw SK Law, et al. 1999 A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins MAC-1 and LFA-1 J Clin Invest 103 97 106 10.1172/JCI3312 1:CAS:528:DyaK1MXjsl2muw%3D%3D 9884339
26. A Etzioni M Frydman S Pollack I Avidor ML Phillips JC Paulson, et al. 1992 Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency N Engl J Med 327 1789 1792 1:STN:280:DyaK3s%2FmtlWgsQ%3D%3D 1279426
27. T Lubke T Marquardt A Etzioni E Hatmann K von Figura C Korner 2001 Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency Nat Genet 28 73 76 10.1038/88299 1:CAS:528:DC%2BD3MXjt1Wqu7c%3D 11326280 (Pubitemid 32405821)
28. TA Springer 1994 Traffic signals for lymphocyte recirculation and leukocyte emigration: the multistep paradigm Cell 76 301 314 10.1016/0092-8674(94)90337-9 1:CAS:528:DyaK2cXhs1Srtrg%3D 7507411 (Pubitemid 24046692)
29. R Alon A Etzioni 2003 LAD III, a novel group of leukocyte integrin activation deficiencies Trends Immunol 24 561 566 10.1016/j.it.2003.08.001 1:CAS:528:DC%2BD3sXnvVKktbs%3D 14552841 (Pubitemid 37205208)
30. A McDowall D Inwald B Leitinger A Jones R Liesner N Klein, et al. 2003 A novel form of integrin dysfunction involving beta 1, beta 2 and beta 3 integrins J Clin Invest 111 51 60 1:CAS:528:DC%2BD3sXhvVantQ%3D%3D 12511588
31. A Mory SW Feigelson N Yarali SS Kilic GI Bayhan R Gershoni-Baruch A Etzioni R Alon 2008 Kindlin-3: a new gene involved in the pathogenesis of LAD-III Blood 112 2591 10.1182/blood-2008-06-163162 1:CAS:528:DC%2BD1cXhtFCru7jO 18779414
32. C Thomas F Le Deist M Cavazzana-Calvo M Benkerrou E Haddad S Blanche W Hartmann W Friedrich A Fischer 1995 Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency Blood 86 1629 1635 1:CAS:528:DyaK2MXnsVCltb8%3D 7632973
33. A Fischer HT Pham B Descamps-Latscha B Grospierre I Gerota N Perez C Scheinmetzler A Durandy JL Virelizier C Griscelli 1983 Bone marrow transplantation for inborn error of phagocytic cells associated with defective adherence, chemotaxis and oxidative responses during opsonized particle phagocytosis Lancet 2 473 476 10.1016/S0140-6736(83)90509-3 1:STN:280: DyaL3s3ps1aksA%3D%3D 6136643
34. F Le Deist S Blanche H Keable C Gaud H Pham B Descamps-Latscha V Wahn C Griscelli A Fischer 1989 Successful HLA non-identical bone marrow transplantation in three patients with the leukocyte adhesion deficiency Blood 74 512 516 2665844
35. W Qasim M Cavazzana-Calvo EG Davies J Davis M Duval G Eames, et al. 2009 Allogeneic hematopoietic stem cell transplantation for leukocyte adhesion deficiency Pediatrics 123 836 840 10.1542/peds.2008-1191 19255011
36. C Mancias AJ Infante NR Kamani 1999 Matched unrelated donor bone marrow transplantation in leukocyte adhesion deficiency Bone Marrow Transplant 24 1261 1263 10.1038/sj.bmt.1702049 1:STN:280:DC%2BD3c7gslCgsA%3D%3D 10642820
37. NJ Farinha M Duval E Wagner J Champagne N Lapointe S Barrette B Tapiero L Busque MA Champagne 2002 Unrelated bone marrow transplantation for leukocyte adhesion deficiency Bone Marrow Transplant 30 979 981 10.1038/sj.bmt.1703719 1:STN:280:DC%2BD38jhtlantw%3D%3D 12476295 (Pubitemid 36097491)
38. ME Engel DD Hickstein B Jr C Calder B Manes H Frangoul 2006 Matched unrelated bone marrow transplantation with reduced-intensity conditioning for leukocyte adhesion deficiency Bone Marrow Transplant 37 717 718 10.1038/sj.bmt.1705301 1:STN:280:DC%2BD287mt1emug%3D%3D 16489359
39. M Tokunaga K Miyamura H Ohashi N Ishiwada S Terakura M Ikeguchi, et al. 2007 Successful nonmyeloablative bone marrow transplantation for leukocyte adhesion deficiency type I from an unrelated donor Int J Hematol 86 91 95 10.1532/IJH97.06209 17675274 (Pubitemid 47204497)
40. TW Kuijpers R van Bruggen N Kamerbeek ATJ Tool G Hicsonmez A Gurgey A Karow AJ Verhoeven K Seeger O Sanal C Niemeyer D Roos 2007 Natural history and early diagnosis of LAD-1/variant syndrome Blood 109 3529 3537 10.1182/blood-2006-05-021402 1:CAS:528:DC%2BD2sXksFWhs7o%3D 17185466 (Pubitemid 46572546)
41. Kuijpers TW, van de Vijver E, Weterman MAJ, de Boer M, Tool ATJ, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F (2009) LAD-1/variant syndrome is caused by mutations in FERMT3. Blood Dec 8 (in press)
42. JA Winkelstein MC Marino RB Johnston Jr, et al. 2000 Chronic granulomatous disease. Report on a national registry of 368 patients Medicine (Baltimore) 79 155 169 10.1097/00005792-200005000-00003 1:STN:280: DC%2BD3czgtlemtg%3D%3D (Pubitemid 30327530)
43. D Roos R van Bruggen C Meischl 2003 Oxidative killing of microbes by neutrophils Microbes and Infection 5 1307 1315 10.1016/j.micinf.2003.09.009 1:CAS:528:DC%2BD3sXovVeltrw%3D 14613774 (Pubitemid 37410244)
44. RA Clark SJ Klebanoff 1979 Chemotactic factor inactivation by the myeloperoxidase-hydrogen peroxide-halide system J Clin Invest 64 913 920 10.1172/JCI109557 1:CAS:528:DyaE1MXmtV2itbs%3D 225353
45. RA Seger 2008 Modern management of chronic granulomatous disease British J of Haematology 140 255 266 10.1111/j.1365-2141.2007.06880.x 1:CAS:528:DC%2BD1cXitlaktrs%3D
46. RA Seger T Gungor BH Belohradsky S Blanche P Bordigoni P Di Bartolomeo T Flood, et al. 2002 Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000 Blood 100 4344 4350 10.1182/blood-2002-02-0583 1:CAS:528:DC%2BD38XpsFCqs7g%3D 12393596 (Pubitemid 35429672)
47. Schuetz C, Hoenig M, Gatz S, Speth F, Benninghoff U, Schulz A, Debatin KM, Friedrich W (2009) Hematopoietic stem cell transplantation from matched unrelated donors in chronic granulomatous disease. Immunol Res Oct 10 (in press).
48. ME Horwitz AJ Barrett MR Brown CS Carter R Childs JI Gallin SM Holland GF Linton JA Miller, et al. 2001 Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell depleted hematopoietic allograft New England J of Medicine 344 881 888 10.1056/NEJM200103223441203 1:STN:280:DC%2BD3M7msVKgsA%3D%3D (Pubitemid 32224396)
49. T Gungor J Halter A Klink S Junge KD Stumpe R Seger U Schanz 2005 Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients Transplantation 79 1596 1606 10.1097/01.TP.0000163466.73485.5E 15940051 (Pubitemid 40847593)
50. MS Dinauer MA Gifford N Pech II Li P Emshwiller 2001 Variable correction of host defense following gene transfer and bone marrow transplantation in murine X-linked chronic granulomatous disease Blood 97 3738 3745 10.1182/blood.V97.12.3738 1:CAS:528:DC%2BD3MXksVOqs7s%3D 11389011
51. S Stein U Siler MG Ott R Seger M Grez 2006 Gene therapy for chronic granulomatous disease Curr Opin Mol Ther 8 415 422 1:CAS:528:DC%2BD28XhtF2gs7fP 17078383
52. HL Malech PB Maples N Whiting-Theobald GF Linton S Sekhsaria, et al. 1997 Prolong production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease Proceeding of the National Academy of Sciences of the United States of America 94 12133 12138 10.1073/pnas.94.22.12133 1:CAS:528:DyaK2sXntFSmt70%3D (Pubitemid 27467855)
53. HL Malech U Choi S Brenner 2004 Progress toward effective gene therapy for chronic granulomatous disease Jpn J Infect dis 57 S27 S28 15507764
54. MG Ott M Schmidt K Schwarzwaelder S Strin U Siler U Koehl H Glimm K Kuhlcke, et al. 2006 Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVII, PRDM16 or SETBP1 Nat Med 12 401 409 10.1038/nm1393 1:CAS:528:DC%2BD28XjtFKjtbg%3D 16582916
55. MF Ryser J Roesler M Gentsch S Brenner 2007 Gene therapy for chronic granulomatous disease Expert Opin Biol Ther 7 1799 1809 10.1517/14712598.7.12. 1799 1:CAS:528:DC%2BD2sXhtlClsLfJ 18034646 (Pubitemid 350252952)