Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems

ILAR Journal

Volumn 50, Issue 2, 2009, Pages 168-186

  Bauer Jr , Thomas R ^a   Adler, Rima L ^a   Hickstein, Dennis D ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Anemia; Gene therapy; Genetic disease; Hematopoietic; Immunodeficiency; Integrin; Leukocyte; Transplantation

Indexed keywords

ANIMALIA; MURINAE; MUS;

ANIMAL; ARTICLE; CAT; CATTLE; DISEASE MODEL; DOG; GENE THERAPY; GENE VECTOR; GENETICS; HEMATOLOGIC DISEASE; HORSE; IMMUNOPATHOLOGY; METHODOLOGY;

ANIMALS; CATS; CATTLE; DISEASE MODELS, ANIMAL; DOGS; GENE THERAPY; GENETIC VECTORS; HEMATOLOGIC DISEASES; HORSES; IMMUNE SYSTEM DISEASES;

EID: 66149117418     PISSN: 10842020     EISSN: None     Source Type: Journal    
DOI: 10.1093/ilar.50.2.168     Document Type: Review

References (207)

1. Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C. 2002. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296:2410-2413.
2. Allan FJ, Thompson KG, Jones BR, Burbidge HM, McKinley RL. 1996. Neutropenia with a probable hereditary basis in Border Collies. N Z Vet J 44:67-72.
3. Almeida AM, Khair K, Hann I, Liesner R. 2003. The use of recombinant factor VIIa in children with inherited platelet function disorders. Br J Hæmatol 121:477-481.
4. Alon R, Etzioni A. 2003. LAD-III: A novel group of leukocyte integrin activation deficiencies. Trends Immunol 24:561-566.
5. Anderson DC, Smith CW. 2001. Leukocyte adhesion deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. p 4829-4856.
6. Anderson DC, Schmalsteig FC, Finegold MJ, Hughes BJ, Rothlein R, Miller LJ, Kohl S, Tosi MF, Jacobs RL, Waldrop TC, Goldman AS, Shearer WT, Springer TA. 1985. The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: Their quantitative definition and relation to leukocyte dysfunction and clinical features. J Infect Dis 152:668-689.
7. Anderson WF, Blaese RM, Culver K. 1990. The ADA human gene therapy clinical protocol: Points to Consider response with clinical protocol, July 6, 1990. Hum Gene Ther 1:331-362.
8. Araki R, Fujimori A, Hamatani K, Mita K, Saito T, Mori M, Fukumura R, Morimyo M, Muto M, Itoh M, Tatsumi K, Abe M. 1997. Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. Proc Natl Acad Sci U S A 94:2438-2443.
9. Ayers JR, Leipold HW, Padgett GA. 1988. Lesions in Brangus cattle with Chédiak-Higashi syndrome. Vet Pathol 25:432-436.
10. Badolato R, Parolini S. 2007. Novel insights from adaptor protein 3 complex deficiency. J Allergy Clin Immun 120:735-741.
11. Baekelandt V, Claeys A, Cherepanov P, De Clercq E, De Strooper B, Nuttin B, Debyser Z. 2000. DNA-dependent protein kinase is not required for efficient lentivirus integration. J Virol 74:11278-11285.
12. Balabanian K, Levoye A, Klemm L, Lagane B, Hermine O, Harriague J, Baleux F, Arenzana-Seisdedos F, Bachelerie F. 2008. Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. J Clin Invest 118:1074-1084.
13. Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF. 1996. Identification of the homologous beige and Chédiak-Higashi syndrome genes. Nature 382:262-265.
14. Barker JE, Deveau S, Wandersee NJ. 2000. Amelioration of severe hereditary spherocytosis in nonablated adult mice by marrow transplantation. Exp Hematol 28:985-992.
15. Barrat FJ, Le Deist F, Benkerrou M, Bousso P, Feldmann J, Fischer A, de Saint Basile G. 1999. Defective CTLA-4 cycling pathway in Chédiak-Higashi syndrome: A possible mechanism for deregulation of T lymphocyte activation. Proc Natl Acad Sci U S A 96:8645-8650.
16. Bauer TR Jr, Hickstein DD. 2000. Gene therapy for leukocyte adhesion deficiency. Curr Opin Mol Ther 2:383-388.
17. Bauer TR Jr, Schwartz BR, Liles WC, Ochs HD, Hickstein DD. 1998. Retroviral-mediated gene transfer of the leukocyte integrin CD18 into peripheral blood CD34+ cells derived from a patient with leukocyte adhesion deficiency type 1. Blood 91:1520-1526.
18. Bauer TR Jr, Gu YC, Tuschong LM, Burkholder T, Bacher JD, Starost MF, Donahue RE, Sokolic RA, Hickstein DD. 2005. Nonmyeloablative hematopoietic stem cell transplantation corrects the disease phenotype in the canine model of leukocyte adhesion deficiency. Exp Hematol 33:706-712.
19. Bauer TR Jr, Hai M, Tuschong LM, Burkholder TH, Gu Y-C, Sokolic RA, Ferguson C, Dunbar CE, Hickstein DD. 2006. Correction of the disease phenotype in canine leukocyte adhesion deficiency using ex-vivo hematopoietic stem cell gene therapy. Blood 108:1767-1769.
20. Bauer TR Jr, Allen JM, Hai M, Tuschong LM, Khan IF, Olson EM, Adler RL, Burkholder TH, Gu YC, Russell DW, Hickstein DD. 2008. Successful treatment of canine leukocyte adhesion deficiency by foamy virus vectors. Nat Med 14:93-97.
21. Beard BC, Keyser KA, Trobridge GD, Peterson LJ, Miller DG, Jacobs M, Kaul R, Kiem HP. 2007. Unique integration profiles in a canine model of long-term repopulating cells transduced with gammaretrovirus, lentivirus, or foamy virus. Hum Gene Ther 18:423-434.
22. Becker PS, Dooner GJ, Berrios VM, Jacque B, Gallagher PG, Forget BG, Barker JE. 2001. Ankyrin gene transfer to bone marrow progenitors from nb/nb spherocytosis mutants and engraftment in recipients results in a new hemolytic anemia with markedly aberrant red cell shape. Blood 98:697a.
23. Bellucci S, Devergie A, Gluckman E, Tobelem G, Lethielleux P, Benbunan M, Schaison G, Boiron M. 1985. Complete correction of Glanzmann thrombasthenia by allogeneic bone-marrow transplantation. Br J Hæmatol 59:635-641.
24. Benjelloun F, Garrigue A, Demerens-de Chappedelaine C, Soulas-Sprauel P, Malassis-Seris M, Stockholm D, Hauer J, Blondeau J, Riviere J, Lim A, Le Lorc'h M, Romana S, Brousse N, Paques F, Galy A, Charneau P, Fischer A, de Villartay JP, Cavazzana-Calvo M. 2008. Stable and functional lymphoid reconstitution in Artemis-deficient mice following lentiviral Artemis gene transfer into hematopoietic stem cells. Mol Ther 16:1490-1499.
25. Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. 2003. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 35:90-96.
26. Bergmeier W, Goerge T, Wang HW, Crittenden JR, Baldwin AC, Cifuni SM, Housman DE, Graybiel AM, Wagner DD. 2007. Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. J Clin Invest 117:1699-1707.
27. Blume RS, Padgett GA, Wolff SM, Bennett JM. 1969. Giant neutrophil granules in the Chédiak-Higashi syndrome of man, mink, cattle and mice. Can J Comp Med 33:271-274.
28. Boudreaux MK, Catalfamo JL. 2001. Molecular and genetic basis for thrombasthenic thrombopathia in otterhounds. Am J Vet Res 62:1797-1804.
29. Boudreaux MK, Lipscomb DL. 2001. Clinical, biochemical, and molecular aspects of Glanzmann's thrombasthenia in humans and dogs. Vet Pathol 38:249-260.
30. Boudreaux MK, Kvam K, Dillon AR, Bourne C, Scott M, Schwartz KA, Toivio-Kinnucan M. 1996. Type I Glanzmann's thrombasthenia in a Great Pyrenees dog. Vet Pathol 33:503-511.
31. Boudreaux MK, Niemeyer GP, Wilcox DA, Brawner WR, Lothrop CD. 2001. Correction of type I Glanzmann's thrombasthenia in Great Pyrenees dog by nonmyeloablative marrow transplantation. Blood 98:a721.
32. Boudreaux MK, Catalfamo JL, Klok M. 2007a. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92.
33. Boudreaux MK, Schmutz SM, French PS. 2007b. Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf. Vet Pathol 44:932-935.
34. Bruce LJ. 2008. Red cell membrane transport abnormalities. Curr Opin Hematol 15:184-190.
35. Buckley RH. 2004a. A historical review of bone marrow transplantation for immunodeficiencies. J Allergy Clin Immun 113:793-800.
36. Buckley RH. 2004b. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22:625-655.
37. Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, Myers LA, Ward FE. 1999. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340:508-516.
38. Bue CM, Davis WC, Magnuson NS, Mottironi VD, Ochs HD, Wyatt CR, Perryman LE. 1986. Correction of equine severe combined immunodeficiency by bone marrow transplantation. Transplantation 42:14-19.
39. Catalfamo JL, Dodds WJ. 2000. Thrombopathias. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 1042-1050.
40. Catalfamo JL, Raymond SL, White JG, Dodds WJ. 1986. Defective platelet-fibrinogen interaction in hereditary canine thrombopathia. Blood 67:1568-1577.
41. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, Gross F, Yvon E, Nusbaum P, Selz F, Hue C, Certain S, Casanova JL, Bousso P, Deist FL, Fischer A. 2000. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288:669-672.
42. Certain S, Barrat F, Pastural E, Le Deist F, Goyo-Rivas J, Jabado N, Benkerrou M, Seger R, Vilmer E, Beullier G, Schwarz K, Fischer A, de Saint Basile G. 2000. Protein truncation test of LYST reveals heterogenous mutations in patients with Chédiak-Higashi syndrome. Blood 95:979-983.
43. Chédiak MM. 1952. Nouvelle anomalie leucocytaire de caractère constitutionnel et familial. Rev Hematol 7:362-367.
44. Christopherson PW, Insalaco TA, van Santen VL, Livesey L, Bourne C, Boudreaux MK. 2006. Characterization of the cDNA encoding αIIb and β3 in normal horses and two horses with Glanzmann thrombasthenia. Vet Pathol 43:78-82.
45. Christopherson PW, van Santen VL, Livesey L, Boudreaux MK. 2007. A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse. J Vet Intern Med 21:196-198.
46. Civin CI, Strauss LC, Brovall C, Fackler MJ, Schwartz JF, Shaper JH. 1984. Antigenic analysis of hematopoiesis. III. A hematopoietic progenitor cell surface antigen defined by a monoclonal antibody raised against KG-1a cells. J Immunol 133:157-165.
47. Clark RH, Stinchcombe JC, Day A, Blott E, Booth S, Bossi G, Hamblin T, Davies EG, Griffiths GM. 2003. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 4:1111-1120.
48. Colgan SP, Hull-Thrall MA, Gasper PW, Gould DH, Rose BJ, Fulton R, Blanquaert AM, Bruyninckx WJ. 1991. Restoration of neutrophil and platelet function in feline Chédiak-Higashi syndrome by bone marrow transplantation. Bone Marrow Transpl 7:365-374.
49. Colgan SP, Gasper PW, Thrall MA, Boone TC, Blancquaert AM, Bruyninckx WJ. 1992. Neutrophil function in normal and Chédiak-Higashi syndrome cats following administration of recombinant canine granulocyte colony-stimulating factor. Exp Hematol 20:1229-1234.
50. Connor P, Khair K, Liesner R, Amrolia P, Veys P, Ancliff P, Mathias M. 2008. Stem cell transplantation for children with Glanzmann thrombasthenia. Br J Hæmatol 140:568-571.
51. Dale DC, Graw RG Jr. 1974. Transplantation of allogenic bone marrow in canine cyclic neutropenia. Science 183:83-84.
52. Daniel R, Katz RA, Skalka AM. 1999. A role for DNA-PK in retroviral DNA integration. Science 284:644-647.
53. Dave UP, Jenkins NA, Copeland NG. 2004. Gene therapy insertional mutagenesis insights. Science 303:333.
54. Davis B, Toivio-Kinnucan M, Schuller S, Boudreaux MK. 2008. Mutation in β1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. J Vet Intern Med 22:540-545.
55. Debenham SL, Millington A, Kijas J, Andersson L, Binns M. 2002. Canine leucocyte adhesion deficiency in Irish red and white setters. J Small Anim Pract 43:74-75.
56. Delaunay J. 2007. The molecular basis of hereditary red cell membrane disorders. Blood Rev 21:1-20.
57. DiGiacomo RF, Hammond WP, Kunz LL, Cox PA. 1983. Clinical and pathologic features of cyclic hematopoiesis in grey collie dogs. Am J Pathol 111:224-233.
58. Dinauer MC, Lekstrom-Himes JA, Dale DC. 2000. Inherited neutrophil disorders: Molecular basis and new therapies. Hematology Am Soc Hematol Educ Program:303-318.
59. Ding Q, Bramble L, Yuzbasiyan-Gurkan V, Bell T, Meek K. 2002. DNAPKcs mutations in dogs and horses: Allele frequency and association with neoplasia. Gene 283:263-269.
60. Dodds WJ. 1967. Familial canine thrombocytopathy. Thromb Diath Haemorrh (Suppl) 26:241-248.
61. Dooner GJ, Barker JE, Gallagher PG, Debatis ME, Brown AH, Forget BG, Becker PS. 2000. Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro. Exp Hematol 28:765-774.
62. Drouet J, Frit P, Delteil C, de Villartay JP, Salles B, Calsou P. 2006. Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends. J Biol Chem 281:27784-27793.
63. Dunbar CE. 2005. Stem cell gene transfer: Insights into integration and hematopoiesis from primate genetic marking studies. Ann N Y Acad Sci 1044:178-182.
64. Eapen M, DeLaat CA, Baker KS, Cairo MS, Cowan MJ, Kurtzberg J, Steward CG, Veys PA, Filipovich AH. 2007. Hematopoietic cell transplantation for Chédiak-Higashi syndrome. Bone Marrow Transpl 39:411-415.
65. Emambokus NR, Frampton J. 2003. The glycoprotein IIb molecule is expressed on early murine hematopoietic progenitors and regulates their numbers in sites of hematopoiesis. Immunity 19:33-45.
66. Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Muller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S. 2006. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 108:81-87.
67. Etzioni AAR. 2004. Leukocyte adhesion deficiency III: A group of integrin activation defects in hematopoietic lineage cells. Curr Opin Allergy Cl 4:485-490.
68. Etzioni A, Doerschuk CM, Harlan JM. 1999. Of man and mouse: Leukocyte and endothelial adhesion molecule deficiencies. Blood 94:3281-3288.
69. Falcone V, Schweizer M, Neumann-Haefelin D. 2003. Replication of primate foamy viruses in natural and experimental hosts. Curr Top Microbiol 277:161-180.
70. Fang J, Hodivala-Dilke K, Johnson BD, Du LM, Hynes RO, White GC 2nd, Wilcox DA. 2005. Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia. Blood 106:2671-2679.
71. Felsburg PJ, Somberg RL, Hartnett BJ, Suter SF, Henthorn PS, Moore PF, Weinberg KI, Ochs HD. 1997. Full immunologic reconstitution following nonconditioned bone marrow transplantation for canine X-linked severe combined immunodeficiency. Blood 90:3214-3221.
72. Felsburg PJ, Hartnett BJ, Henthorn PS, Moore PF, Krakowka S, Ochs HD. 1999. Canine X-linked severe combined immunodeficiency. Vet Immunol Immunop 69:127-135.
73. Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT. 2002. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 99:1651-1658.
74. Fischer A, Cavazzana-Calvo M. 2008. Gene therapy of inherited diseases. Lancet 371:2044-2047.
75. Flake AW, Zanjani ED. 1993. In utero transplantation of hematopoietic stem cells. Crit Rev Oncol Hematol 15:35-48.
76. Flake AW, Roncarolo MG, Puck JM, Almeida-Porada G, Evans MI, Johnson MP, Abella EM, Harrison DD, Zanjani ED. 1996. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med 335:1806-1810.
77. Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, Benassi M, Gentili F, Ferrari D, Notarangelo LD, Cavadini P, Marcenaro E, Dusi S, Cassatella M, Facchetti F, Griffiths GM, Moretta A, Notarangelo LD, Badolato R. 2006. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 107:4857-4864.
78. Foureman P, Whiteley M, Giger U. 2002. Canine leukocyte adhesion deficiency: Presence of the Cys36Ser β-2 integrin mutation in an affected US Irish setter cross-breed dog and in US Irish Red and White setters. J Vet Intern Med 16:518-523.
79. French DL, Coller BS. 1997. Hematologically important mutations: Glanzmann thrombasthenia. Blood Cells Mol Dis 23:39-51.
80. Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C. 2005. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. Blood 106:2356-2362.
81. George JN, Caen JP, Nurden AT. 1990. Glanzmann thrombasthenia: The spectrum of clinical disease. Blood 75:1383-1395.
82. Giger U. 2000. Erythrocyte phosphofructokinase and pyruvate kinase deficiencies. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 1020-1025.
83. Giger U, Boxer LA, Simpson PJ, Lucchesi BR, Todd RF III. 1987. Deficiency of leukocyte surface glycoproteins Mo1, LFA-1, and Leu M5 in a dog with recurrent bacterial infections: An animal model. Blood 69:1622-1630.
84. Giger U, Rajpurohit Y, Wang P, Ford S, Kohn B, Niggemeier A, Patterson DF, Beutler E, Henthorn PS. 1997. Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats. Blood 90:2701.
85. Gitlin D, Craig JM. 1963. The thymus and other lymphoid tissues in congenital agammaglobulinemia. I. Thymic alymphoplasia and lymphocytic hypoplasia and their relation to infection. Pediatrics 32:517-530.
86. Glanzmann E. 1918. Hereditare hemorrhagische thrombasthenie: Ein beitrag zur pathologie der blut plättchen. J Kinderkr 88:113-141.
87. Goldschmidt MH, Kennedy JS, Kennedy DR, Yuan H, Holt DE, Casal ML, Traas AM, Mauldin EA, Moore PF, Henthorn PS, Hartnett BJ, Weinberg KI, Schlegel R, Felsburg PJ. 2006. Severe papillomavirus infection progressing to metastatic squamous cell carcinoma in bone marrow-transplanted X-linked SCID dogs. J Virol 80:6621-6628.
88. Gu YC, Bauer TR Jr, Ackermann MR, Smith CW, Kehrli ME Jr, Starost MF, Hickstein DD. 2004. The genetic immunodeficiency disease, leukocyte adhesion deficiency, in humans, dogs, cattle, and mice. Comp Med 54:363-372.
89. Gu YC, Bauer TR, Sokolic RA, Hai M, Tuschong LM, Burkholder T, Bacher J, Starost MF, Hickstein DD. 2006. Conversion of the severe to the moderate disease phenotype with donor leukocyte microchimerism in canine leukocyte adhesion deficiency. Bone Marrow Transpl 37:607-614.
90. Gulino AV. 2003. WHIM syndrome: A genetic disorder of leukocyte trafficking. Curr Opin Allergy Cl 3:443-450.
91. Gunji Y, Nakamura M, Hagiwara T, Hayakawa K, Matsushita H, Osawa H, Nagayoshi K, Nakauchi H, Yanagisawa M, Miura Y, Suda T. 1992. Expression and function of adhesion molecules on human hematopoietic stem cells: CD34+ LFA-1- cells are more primitive than CD34+ LFA-1+ cells. Blood 80:429-436.
92. Hacein-Bey-Abina S, Le Deist F, Carlier F, Bouneaud C, Hue C, De Villartay JP, Thrasher AJ, Wulffraat N, Sorensen R, Dupuis-Girod S, Fischer A, Davies EG, Kuis W, Leiva L, Cavazzana-Calvo M. 2002. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 346:1185-1193.
93. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, McCormack MP, Wulffraat N, Leboulch P, Lim A, Osborne CS, Pawliuk R, Morillon E, Sorensen R, Forster A, Fraser P, Cohen JI, de Saint Basile G, Alexander I, Wintergerst U, Frebourg T, Aurias A, Stoppa-Lyonnet D, Romana S, Radford-Weiss I, Gross F, Valensi F, Delabesse E, Macintyre E, Sigaux F, Soulier J, Leiva LE, Wissler M, Prinz C, Rabbitts TH, Le Deist F, Fischer A, Cavazzana-Calvo M. 2003. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302:415-419.
94. Hacein-Bey-Abina S, Garrigue A, Wang GP, Soulier J, Lim A, Morillon E, Clappier E, Caccavelli L, Delabesse E, Beldjord K, Asnafi V, Macintyre E, Dal Cortivo L, Radford I, Brousse N, Sigaux F, Moshous D, Hauer J, Borkhardt A, Belohradsky BH, Wintergerst U, Velez MC, Leiva L, Sorensen R, Wulffraat N, Blanche S, Bushman FD, Fischer A, Cavazzana-Calvo M. 2008. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 118:3132-3142.
95. Haddad E, Le Deist F, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, Griscelli C, Fischer A. 1995. Treatment of Chédiak-Higashi syndrome by allogenic bone marrow transplantation: Report of 10 cases. Blood 85:3328-3333.
96. Hartley KO, Gell D, Smith GC, Zhang H, Divecha N, Connelly MA, Admon A, Lees-Miller SP, Anderson CW, Jackson SP. 1995. DNA-dependent protein kinase catalytic subunit: A relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell 82:849-856.
97. Hartnett BJ, Yao D, Suter SE, Ellinwood NM, Henthorn PS, Moore PE, McSweeney PA, Nash RA, Brown JD, Weinberg KI, Felsburg PJ. 2002. Transplantation of X-linked severe combined immunodeficient dogs with CD34+ bone marrow cells. Biol Blood Marrow Tr 8:188-197.
98. Henthorn PS, Felsburg PJ 2000. X-linked severe combined immunodeficiency. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 984-987.
99. Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. 1994. IL-2Rγ gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23:69-74.
100. Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA. 2003. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet 34:70-74.
101. Higashi O. 1954. Congenital gigantism of peroxidase granules: The first case ever reported of qualitative abnormity of peroxidase. Tohoku J Exp Med 59:315-332.
102. Hodivala-Dilke KM, McHugh KP, Tsakiris DA, Rayburn H, Crowley D, Ullman-Cullere M, Ross FP, Coller BS, Teitelbaum S, Hynes RO. 1999. β3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. J Clin Invest 103:229-238.
103. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. 1999. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic hæmatopoiesis. Nat Genet 23:433-436.
104. Howe SJ, Mansour MR, Schwarzwaelder K, Bartholomae C, Hubank M, Kempski H, Brugman MH, Pike-Overzet K, Chatters SJ, de Ridder D, Gilmour KC, Adams S, Thornhill SI, Parsley KL, Staal FJ, Gale RE, Linch DC, Bayford J, Brown L, Quaye M, Kinnon C, Ancliff P, Webb DK, Schmidt M, von Kalle C, Gaspar HB, Thrasher AJ. 2008. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest 118:3143-3150.
105. Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. 2002. Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 51:150-158.
106. Inaba M. 2000. Red blood cell membrane defects. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 1012-1019.
107. Inaba M, Yawata A, Koshino I, Sato K, Takeuchi M, Takakuwa Y, Manno S, Yawata Y, Kanzaki A, Sakai J, Ban A, Ono K, Maede Y. 1996. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest 97:1804-1817.
108. Inoue T, Tani K, Tajiri M, Ishida Y, Seguchi M, Tanaka H, Asano S, Kaneko T, Matsumoto N. 1992. A case report of familial cyclic neutropenia. Tohoku J Exp Med 167:107-113.
109. Jezyk PF, Felsburg PJ, Haskins ME, Patterson DF. 1989. X-linked severe combined immunodeficiency in the dog. Clin Immunol Immunop 52:173-189.
110. Johnstone IB, Lotz F. 1979. An inherited platelet function defect in basset hounds. Can Vet J 20:211-215.
111. Jones JB, Yang TJ, Dale JB, Lange RD. 1975. Canine cyclic haematopoiesis: Marrow transplantation between littermates. Br J Hæmatol 30:215-223.
112. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schaffer AA, Rathinam C, Kollner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C. 2006. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 108:362-369.
113. Kahn J, Byk T, Jansson-Sjostrand L, Petit I, Shivtiel S, Nagler A, Hardan I, Deutsch V, Gazit Z, Gazit D, Karlsson S, Lapidot T. 2004. Overexpression of CXCR4 on human CD34+ progenitors increases their proliferation, migration, and NOD/SCID repopulation. Blood 103:2942-2949.
114. Kaplan J, De Domenico I, Ward DM. 2008. Chédiak-Higashi syndrome. Curr Opin Hematol 15:22-29.
115. Kehrli ME Jr, Ackermann MR, Shuster DE, van der Maaten MJ, Schmalstieg FC, Anderson DC, Hughes BJ. 1992. Bovine leukocyte adhesion deficiency: β2 integrin deficiency in young Holstein cattle. Am J Pathol 140:1489-1492.
116. Kehrli ME Jr, Ackermann MR, Gilbert RO, Shuster DE. 2000. Leukocyte adhesion deficiency. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 995-1001.
117. Kijas JMH, Bauer TR Jr, Gäfvert S, Marklund S, Trowald-Wigh G, Johannisson A, Hedhammar Å, Binns M, Juneja RK, Hickstein DD, Andersson L. 1999. A missense mutation in the β-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency. Genomics 61:101-107.
118. Kilic SS, Etzioni A. 2009. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol 29:117-122.
119. Kinashi T. 2005. Intracellular signalling controlling integrin activation in lymphocytes. Nat Rev Immunol 5:546-559.
120. Kohn B, Fumi C. 2008. Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. J Feline Med Surg 10:145-153.
121. Kramer JW, Davis WC, Prieur DJ. 1977. The Chédiak-Higashi syndrome of cats. Lab Invest 36:554-562.
122. Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F. 2008. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood (in press).
123. Kunieda T, Nakagiri M, Takami M, Ide H, Ogawa H. 1999. Cloning of bovine LYST gene and identification of a missense mutation associated with Chédiak-Higashi syndrome of cattle. Mamm Genome 10:1146-1149.
124. Laffort C, Le Deist F, Favre M, Caillat-Zucman S, Radford-Weiss I, Debre M, Fraitag S, Blanche S, Cavazzana-Calvo M, de Saint Basile G, de Villartay JP, Giliani S, Orth G, Casanova JL, Bodemer C, Fischer A. 2004. Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency. Lancet 363:2051-2054.
125. Lagresle-Peyrou C, Benjelloun F, Hue C, Andre-Schmutz I, Bonhomme D, Forveille M, Beldjord K, Hacein-Bey-Abina S, De Villartay JP, Charneau P, Durandy A, Fischer A, Cavazzana-Calvo M. 2008. Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients. Mol Ther 16:396-403.
126. Li L, Moshous D, Zhou Y, Wang J, Xie G, Salido E, Hu D, de Villartay JP, Cowan MJ. 2002. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol 168:6323-6329.
127. Lipscomb DL, Bourne C, Boudreaux MK. 2000. Two genetic defects in IIb are associated with type I Glanzmann thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a splicing defect of intron 13. Vet Pathol 37:581-588.
128. Livesey L, Christopherson P, Hammond A, Perkins J, Toivio-Kinnucan M, Insalaco T, Boudreaux MK. 2005. Platelet dysfunction (Glanzmann's thrombasthenia) in horses. J Vet Intern Med 19:917-919.
129. Lothrop CD Jr, Warren DJ, Souza LM, Jones JB, Moore MA. 1988. Correction of canine cyclic hematopoiesis with recombinant human granulocyte colony-stimulating factor. Blood 72:1324-1328.
130. Lund JE, Padgett GA, Ott RL. 1967. Cyclic neutropenia in grey collie dogs. Blood 29:452-461.
131. Ma Y, Pannicke U, Schwarz K, Lieber MR. 2002. Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 108:781-794.
132. Macieira S, Rivard GE, Champagne J, Lavoie JP, Bedard C. 2007. Glanzmann thrombasthenia in an Oldenbourg filly. Vet Clin Pathol 36:204-208.
133. Meek K, Kienker L, Dallas C, Wang W, Dark MJ, Venta PJ, Huie ML, Hirschhorn R, Bell T. 2001. SCID in Jack Russell terriers: A new animal model of DNA-PKcs deficiency. J Immunol 167:2142-2150.
134. Meyers KM. 2000. Chédiak-Higashi syndrome. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 971-975.
135. Meza NW, Quintana-Bustamante O, Puyet A, Rio P, Navarro S, Diez A, Bueren JA, Bautista JM, Segovia JC. 2007. In vitro and in vivo expression of human erythrocyte pyruvate kinase in erythroid cells: A gene therapy approach. Hum Gene Ther 18:502-514.
136. Mohle R, Bautz F, Rafii S, Moore MA, Brugger W, Kanz L. 1998. The chemokine receptor CXCR-4 is expressed on CD34+ hematopoietic progenitors and leukemic cells and mediates transendothelial migration induced by stromal cell-derived factor-1. Blood 91:4523-4530.
137. Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP. 2001. Artemis, a novel DNA double-strand break repair/V(D) J recombination protein, is mutated in human severe combined immune deficiency. Cell 105:177-186.
138. Nagahata H, Noda H, Takahashi K, Kurosawa T, Sonoda M. 1987. Bovine granulocytopathy syndrome: Neutrophil dysfunction in Holstein Friesian calves. Zentralb Vet Riehe A 34:445-451.
139. Nagahata H, Matsuki S, Higuchi H, Inanami O, Kuwabara M, Kobayashi K. 1998. Bone marrow transplantation in a Holstein heifer with bovine leucocyte adhesion deficiency. Vet J 156:15-21.
140. Nagahata H, Hagiwara K, Higuchi H, Kirisawa R, Iwai H. 2002. Analysis of serum cytokine profile in a Holstein heifer with leukocyte adhesion deficiency which survived for long period. J Vet Med Sci 64:683-687.
141. Navarro-Núñez L, Lozano ML, Rivera J, Corral J, Roldán V, González-Conejero R, Iniesta JA, Montaner J, Vicente V, Martínez C. 2007. The association of the β1-tubulin Q43P polymorphism with intracerebral hemorrhage in men. Hæmatologica 92:513-518.
142. Niemeyer GP, Lothrop CD Jr. 2000. Cyclic hemopoiesis. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 960-964.
143. Niemeyer GP, Boudreaux MK, Goodman-Martin SA, Monroe CM, Wilcox DA, Lothrop CD Jr. 2003. Correction of a large animal model of type I Glanzmann thrombasthenia by nonmyeloablative bone marrow transplantation. Exp Hematol 31:1357-1362.
144. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. 1993. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147-157.
145. Nurden AT, Caen JP. 1974. An abnormal platelet glycoprotein pattern in three cases of Glanzmann thrombasthenia. Br J Hæmatol 28:253-260.
146. O'Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, Cowan MJ. 2001. Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transpl 27:703-709.
147. Ogawa H, Tu CH, Kagamizono H, Soki K, Inoue Y, Akatsuka H, Nagata S, Wada T, Ikeya M, Makimura S, Uchida K, Yamaguchi R, Otsuka H. 1997. Clinical, morphologic, and biochemical characteristics of Chédiak-Higashi syndrome in fifty-six Japanese black cattle. Am J Vet Res 58:1221-1226.
148. Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, Glimm H, Kühlcke K, Schilz A, Kunkel H, Naundorf S, Brinkmann A, Deichmann A, Fischer M, Ball C, Pilz I, Dunbar C, Du Y, Jenkins NA, Copeland NG, Lüthi U, Hassan M, Thrasher AJ, Hoelzer D, von Kalle C, Seger R, Grez M. 2006. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 12:401-409.
149. Padgett GA, Leader RW, Gorham JR, O'Mary CC. 1964. The familial occurrence of the Chédiak-Higashi syndrome in mink and cattle. Genetics 49:505-512.
150. Penner JD, Prieur DJ. 1987. Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chédiak-Higashi syndrome. Am J Med Genet 28:455-470.
151. Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J. 1997. The Beige/Chédiak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 272:29790-29794.
152. Perryman LE. 2000. Severe combined immunodeficiency in Arabian foals. In: Feldman BF, Zinkl JG, Jain NC, eds. Schalm's Veterinary Hematology. New York: Lippincott Williams & Wilkins. p 988-991.
153. Perryman LE. 2004. Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol 41:95-100.
154. Pullen RP, Somberg RL, Felsburg PJ, Henthorn PS. 1997. X-linked severe combined immunodeficiency in a family of Cardigan Welsh corgis. J Am Anim Hosp Assoc 33:494-499.
155. Qasim W, Cavazzana-Calvo M, Davies EG, Davis J, Duval M, Eames G, Farinha N, Filipovich A, Fischer A, Friedrich W, Gennery A, Heilman C, Landais P, Horwitz M, Porta F, Sedlacek P, Seger R, Slatte M, Teague L, Eapen M, Veys P. 2009. Allogeneic hematopoietic stem cell transplantation for leukocyte adhesion deficiency. Pediatrics (in press).
156. Renshaw HW, Chatburn C, Bryan GM, Bartsch RC, Davis WC. 1975. Canine granulocytopathy syndrome: Neutrophil dysfunction in a dog with recurrent infections. JAVMA 166:443-447.
157. Richard RE, Weinreich M, Chang KH, Ieremia J, Stevenson MM, Blau CA. 2004. Modulating erythrocyte chimerism in a mouse model of pyruvate kinase deficiency. Blood 103:4432-4439.
158. Schultze-Strasser S, Kramer R, Preiss C, Ott MG, Stein S, Grez M. 2008. Silencing of proviral transgene expression by CpG methylation in a gene therapy trial for chronic granulomatous disease. Blood Cells Mol Dis 40:283-284.
159. Schwarz K, Hansen-Hagge TE, Knobloch C, Friedrich W, Kleihauer E, Bartram CR. 1991. Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. J Exp Med 174:1039-1048.
160. Schwer HD, Lecine P, Tiwari S, Italiano JE Jr, Hartwig JH, Shivdasani RA. 2001. A lineage-restricted and divergent β-tubulin isoform is essential for the biogenesis, structure and function of blood platelets. Curr Biol 11:579-586.
161. Searcy GPPL. 1990. Clinical and laboratory findings of a bleeding disorder in Simmental cattle. Can Vet J 31:101-103.
162. Searcy GP, Miller DR, Tasker JB. 1971. Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 35:67-70.
163. Searcy GP, Tasker JB, Miller DR. 1979. Animal model of human disease: Pyruvate kinase deficiency. Am J Pathol 94:689-692.
164. Searcy GP, Sheridan D, Dobson KA. 1990. Preliminary studies of a platelet function disorder in Simmental cattle. Can J Vet Res 54:394-396.
165. Shearman JR, Wilton AN. 2007. Elimination of neutrophil elastase and the genes for adaptor protein complex 3 subunits as the cause of trapped neutrophil syndrome in Border collies. Anim Genet 38:188-189.
166. Shearman JR, Zhang QY, Wilton AN. 2006. Exclusion of CXCR4 as the cause of trapped neutrophil syndrome in Border Collies using five microsatellites on canine chromosome 19. Anim Genet 37:89.
167. Shiflett SL, Kaplan J, Ward DM. 2002. Chédiak-Higashi syndrome: A rare disorder of lysosomes and lysosome-related organelles. Pigment Cell Res 15:251-257.
168. Shin EK, Perryman LE, Meek K. 1997. A kinase-negative mutation of DNA-PKcs in equine SCID results in defective coding and signal joint formation. J Immunol 158:3565-3569.
169. Shiraishi M, Ogawa H, Ikeda M, Kawashima S, Ito K. 2002. Platelet dysfunction in Chédiak-Higashi syndrome-affected cattle. J Vet Med Sci 64:751-760.
170. Shuster DE, Kehrli ME Jr, Ackermann MR, Gilbert RO. 1992. Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proc Natl Acad Sci U S A 89:9225-9229.
171. Singh MK, Lamb WA. 2005. Idiopathic thrombocytopenia in Cavalier King Charles Spaniels. Aust Vet J 83:700-703.
172. Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. 1999. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res 60:1169-1172.
173. Slappendel RJ, van Zwieten R, van Leeuwen M, Schneijdenberg CT. 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med 19:187-192.
174. Smedile LE, Houston DM, Taylor SM, Post K, Searcy GP. 1997. Idiopathic, asymptomatic thrombocytopenia in Cavalier King Charles spaniels: 11 cases (1983-1993). J Am Anim Hosp Assoc 33:411-415.
175. Sokolic RA, Bauer TR, Gu YC, Hai M, Tuschong LM, Burkholder T, Colenda L, Bacher J, Starost MF, Hickstein DD. 2005. Nonmyeloablative conditioning with busulfan before matched littermate bone marrow transplantation results in reversal of the disease phenotype in canine leukocyte adhesion deficiency. Biol Blood Marrow Tr 11:755-763.
176. Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS. 1995. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunop 47:203-213.
177. Spritz RA. 1999. Multi-organellar disorders of pigmentation: Tied up in traffic. Clin Genet 55:309-317.
178. Sung JH, Meyers JP, Stadlan EM, Cowen D, Wolf A. 1969. Neuropathological changes in Chédiak-Higashi disease. J Neuropath Exp Neur 28:86-118.
179. Suter SE, Gouthro TA, O'Malley T, Hartnett BJ, McSweeney PA, Moore PF, Felsburg PJ, Haskins ME, Henthorn PS. 2007. Marking of peripheral T-lymphocytes by retroviral transduction and transplantation of CD34+ cells in a canine X-linked severe combined immunodeficiency model. Vet Immunol Immunop 117:183-196.
180. Taaning E, Knudsen FU, Thorsen S, Jonsson V. 1997. Immunization against platelet glycoprotein IIb-IIIa in Glanzmann's thrombasthenia. Eur J Hæmatol 58:360-361.
181. Takatu A, Nash RA, Zaucha JM, Little MT, Georges GE, Sale GE, Zellmer E, Kuhr CS, Lothrop CD Jr, Storb R. 2003. Adoptive immunotherapy to increase the level of donor hematopoietic chimerism after nonmyeloablative marrow transplantation for severe canine hereditary hemolytic anemia. Biol Blood Marrow Tr 9:674-682.
182. Tani K, Yoshikubo T, Ikebuchi K, Takahashi K, Tsuchiya T, Takahashi S, Shimane M, Ogura H, Tojo A, Ozawa K, Takahara Y, Nakauchi H, Markowitz D, Bank A, Asano S. 1994. Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: Implications for gene therapy of human PK deficiency. Blood 83:2305-2310.
183. Tanphaichitr VS, Suvatte V, Issaragrisil S, Mahasandana C, Veerakul G, Chongkolwatana V, Waiyawuth W, Ideguchi H. 2000. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transpl 26:689-690.
184. Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, Blanche S, Fischer A. 2005. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chédiak-Higashi syndrome. Blood 106:40-42.
185. Thomas ED. 1994. Bone marrow transplantation: Past, present and future. Scand J Immunol 39:339-345.
186. Thrasher AJ, Hacein-Bey-Abina S, Gaspar HB, Blanche S, Davies EG, Parsley K, Gilmour K, King D, Howe S, Sinclair J, Hue C, Carlier F, von Kalle C, de Saint Basile G, le Deist F, Fischer A, Cavazzana-Calvo M. 2005. Failure of SCID-X1 gene therapy in older patients. Blood 105:4255-4257.
187. Ting-De Ravin SS, Kennedy DR, Naumann N, Kennedy JS, Choi U, Hartnett BJ, Linton GF, Whiting-Theobald NL, Moore PF, Vernau W, Malech HL, Felsburg PJ. 2006. Correction of canine X-linked severe combined immunodeficiency by in vivo retroviral gene therapy. Blood 107:3091-3097.
188. Trowald-Wigh G, Håkansson L, Johannisson A, Norrgren L, Hård af Segerstad C. 1992. Leucocyte adhesion protein deficiency in Irish setter dogs. Vet Immunol Immunop 32:261-280.
189. Uribe L, Weinberg KI. 1998. X-linked SCID and other defects of cytokine pathways. Semin Hematol 35:299-309.
190. Uzan G, Prenant M, Prandini MH, Martin F, Marguerie G. 1991. Tissuespecific expression of the platelet GPIIb gene. J Biol Chem 266:8932-8939.
191. van der Burg M, Weemaes CM, Preijers F, Brons P, Barendregt BH, van Tol MJ, Hoogerbrugge P, van Dongen JJ. 2006. B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells. Hæmatologica 91:1705-1709.
192. Wagner CL, Mascelli MA, Neblock DS, Weisman HF, Coller BS, Jordan RE. 1996. Analysis of GPIIb/IIIa receptor number by quantification of 7E3 binding to human platelets. Blood 88:907-914.
193. Weiden PL, Storb R, Graham TC, Schroeder ML. 1976. Severe hereditary hæmolytic anæmia in dogs treated by marrow transplantation. Br J Hæmatol 33:357-362.
194. Whitney KM, Goodman SA, Bailey EM, Lothrop CD Jr. 1994. The molecular basis of canine pyruvate kinase deficiency. Exp Hematol 22:866-874.
195. Wilcox DA, Olsen JC, Ishizawa L, Bray PF, French DL, Steeber DA, Bell WR, Griffith M, White GC 2nd. 2000. Megakaryocyte-targeted synthesis of the integrin β3-subunit results in the phenotypic correction of Glanzmann thrombasthenia. Blood 95:3645-3651.
196. Wilcox DA, Fang J, Jensen ES, Du LM, Boudreaux MK. 2008. Hematopoietic stem cell gene therapy for inherited platelet bleeding disorders. Blood Cells Mol Dis 40:291-291.
197. Williams DA. 2006. Gene therapy advances but struggles to interpret safety data in small animal models. Mol Ther 13:1027-1028.
198. Wilson RW, Ballantyne CM, Smith CW, Montgomery C, Bradley A, O'Brien WE, Beaudet AL. 1993. Gene targeting yields a CD18-mutant mouse for study of inflammation. J Immunol 151:1571-1578.
199. Woods NB, Bottero V, Schmidt M, von Kalle C, Verma IM. 2006. Gene therapy: Therapeutic gene causing lymphoma. Nature 440:1123.
200. Xia J, Link DC. 2008. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol 15:1-7.
201. Yamakuchi H, Agaba M, Hirano T, Hara K, Todoroki J, Mizoshita K, Kubota C, Tabara N, Sugimoto Y. 2000. Chédiak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu). Anim Genet 31:13-19.
202. Yamazaki S, Takahashi H, Fujii H, Miyamae T, Mori M, Fujioka K, Funabiki T, Yokota S, Arai N, Ikuta K. 2003. Split chimerism after allogeneic bone marrow transplantation in Chédiak-Higashi syndrome. Bone Marrow Transpl 31:137-140.
203. Yanay O, Barry SC, Katen LJ, Brzezinski M, Flint LY, Christensen J, Liggitt D, Dale DC, Osborne WR. 2003. Treatment of canine cyclic neutropenia by lentivirus-mediated G-CSF delivery. Blood 102:2046-2052.
204. Yanay O, Brzezinski M, Christensen J, Liggitt D, Dale DC, Osborne WR. 2006. An adult dog with cyclic neutropenia treated by lentivirus-mediated delivery of granulocyte colony-stimulating factor. Hum Gene Ther 17:464-469.
205. Zanella A, Fermo E, Bianchi P, Valentini G. 2005. Red cell pyruvate kinase deficiency: Molecular and clinical aspects. Br J Hæmatol 130:11-25.
206. Zaucha JA, Yu C, Lothrop CD Jr, Nash RA, Sale G, Georges G, Kiem HP, Niemeyer GP, Dufresne M, Cao Q, Storb R. 2001. Severe canine hereditary hemolytic anemia treated by nonmyeloablative marrow transplantation. Biol Blood Marrow Tr 7:14-24.
207. Zuelzer WW. 1964. "Myelokathexis": A new form of chronic granulocytopenia: Report of a case. N Engl J Med 270:699-704.