Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

Annual Review of Immunology

Volumn 22, Issue , 2004, Pages 625-655

  Buckley, Rebecca H ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Antigen receptor rearrangement genes; Bone marrow transplantation; Cytokine receptor genes; Gene therapy

Indexed keywords

ADENOSINE DEAMINASE; CD3 ANTIGEN; CD38 ANTIGEN; CD45 ANTIGEN; CORTICOSTEROID; CYCLOSPORIN; CYTOKINE RECEPTOR; ENZYME; GENE PRODUCT; IMMUNOGLOBULIN; INTERLEUKIN 7 RECEPTOR; INTERLEUKIN 7 RECEPTOR ALPHA; JANUS KINASE 3; LYMPHOCYTE ANTIGEN RECEPTOR; RAG1 PROTEIN; RAG2 PROTEIN; RECOMBINANT DNA; RECOMBINASE; TACROLIMUS; UNCLASSIFIED DRUG;

ALLOGENIC BONE MARROW TRANSPLANTATION; APOPTOSIS; B LYMPHOCYTE; BONE MARROW TRANSPLANTATION; CARCINOGENESIS; CHIMERA; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; DISEASE COURSE; ENZYME DEFICIENCY; FACTORIAL ANALYSIS; GENE ACTIVATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENE THERAPY; GENETIC ANALYSIS; GENETIC VARIABILITY; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HLA SYSTEM; HUMAN; IMMUNOCOMPETENT CELL; IMMUNOPHENOTYPING; LEUKEMOID REACTION; LYMPHOCYTE; LYMPHOCYTE DEPLETION; LYMPHOCYTE FUNCTION; MOLECULAR BIOLOGY; NATURAL KILLER CELL; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIDE EFFECT; SURVIVAL RATE; T LYMPHOCYTE; THYMUS; TRANSGENE; VIRAL GENE DELIVERY SYSTEM; VIRUS INFECTION; X CHROMOSOME LINKED DISORDER;

BONE MARROW TRANSPLANTATION; CHILD; CHROMOSOME ABERRATIONS; CLINICAL TRIALS; GENE THERAPY; HUMANS; IMMUNITY, CELLULAR; INFANT; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 2542461255     PISSN: 07320582     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.immunol.22.012703.104614     Document Type: Review

References (97)

1. Glanzmann E, Riniker P. 1950. Essentielle lymphocytophtose. Ein neues krankeitsbild aus der Sauglingspathologie. Ann. Paediatr. 174:1-5
2. Giblett ER, Anderson JE, Cohen I. 1972. Adenosine deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 2:1067-70
3. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, et al. 1993. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147-57
4. Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, et al. 1993. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2:1099-104
5. Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, et al. 1995. Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development. Science 270:797-800
6. Puel A, Ziegler SF, Buckley RH, Leonard WJ. 1998. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat. Genet. 20:394-97
7. Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, et al. 1996. RAG mutations in human B cell-negative SCID. Science 274:97-99
8. Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, et al. 2001. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105:177-86
9. Kung C, Pingel JT, Heikinheimo M, Klemola T, Varkila K, et al. 2000. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat. Med. 6:343-45
10. Dadi H, Simon A, Roifman C. 2003. Effect of CD3δ deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency. N. Engl. J. Med. 349:1821-28
11. Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, et al. 1993. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 cases. J. Pediatr. 123:564-72
12. Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, et al. 1997. Human severe combined immunodeficiency (SCID): Genetic, phenotypic and functional diversity in 108 infants. J. Pediatr. 130:378-87
13. Buckley RH, Schiff SE, Schiff RI, Markert ML, Williams LW, et al. 1999. Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 340:508-16
14. Myers LA, Patel DD, Puck JM, Buckley RH. 2002. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 99:872-78
15. Antoine C, Muller S, Cant A, Cavazzana-Calvo M, Veys P, et al. 2003. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 361:553-60
16. Patel DD, Gooding ME, Parrott RE, Curtis KM, Haynes BF, Buckley RH. 2000. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J Med. 342:1325-32
17. Fischer A, Malissen B. 1998. Natural and engineered disorders of lymphocyte development. Science 280:237-53
18. Altman PL. 1961. Blood leukocyte values: man. In Blood and Other Body Fluids, ed. DS Dittmer, pp. 125-26. Washington, DC: Fed. Am. Soc. Exp. Biol.
19. Hirschhorn R. 1995. Adenosine deaminase deficiency: molecular basis and recent developments. Clin. Immunol. Immunopathol. 76:S219-27
20. Noguchi M, Nakamura Y, Russell SM, Ziegler SF, Tsang M, et al. 1993. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science 262:1877-80
21. Valerio D, Mclvor RS, Williams SR, Duyvesteyn MG, van Ormondt H Jr, et al. 1984. Cloning of human adenosine deaminase cDNA and expression in mouse cells. Gene 31:147-53
22. Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JMB, et al. 1994. Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. J. Immunol. 153:2331-39
23. Sugamura K, Asao H, Kondo M, Tanaka N, Ishii N, et al. 1996. The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID. Annu. Rev. Immunol. 14:179-205
24. Asao H, Okuyama C, Kumaki S, Ishii N, Tsuchiya S, et al. 2001. Cutting edge: the common gamma-chain is an indispensable subunit of the IL-21 receptor complex. J. Immunol. 167:1-5
25. Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, et al. 1997. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 89:1968-77
26. Russell SM, Keegan AD, Harada N, Nakamura Y, Noguchi M, et al. 1993. Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science 262:1880-83
27. Kokron CM, Bonilla FA, Oettgen HC, Ramesh N, Geha RS, Pandolfi F. 1997. Searching for genes involved in the pathogenesis of primary immunodeficiency diseases: lessons from mouse knockouts. J. Clin. Immunol. 17:109-26
28. Stephan V, Wahn V, Le Deist F, Dirksen U, Broker B, et al. 1996. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 335:1563-67
29. Buckley RH. 2002. Primary cellular immunodeficiencies. J. Allerg. Clin. Immunol. 109:747-757
30. Kawamura M, McVicar DW, Johnston JA, Blake TB, Chem Y, et al. 1994. Molecular cloning of L-Jak, a Janus family protein tyrosine kinase expressed in natural killer cells and activated leukocytes. Proc. Natl. Acad. Sci. USA 91:6374-78
31. Macchi P, Villa A, Gillani S, Sacco MG, Frattini A, et al. 1995. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377:65-68
32. Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, et al. 1998. Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. Br. J. Haematol. 102:1363-66
33. Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, et al. 2001. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum. Mutat. 18:255-63
34. Roberts J, Lengi A, Brown S, Chen M, Zhou Y-J, et al. 2004. Janus Kinase 3 (Jak3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. In press
35. Ozaki K, Spolski R, Feng CG, Qi CF, Cheng J, et al. 2002. A critical role for IL-21 in regulating immunoglobulin production. Science 298:1630-34
36. Kennedy MK, Glaccum M, Brown SN, Butz EA, Viney JL, et al. 2000. Reversible defects in natural killer and memory CD8 T cell lineages in interleukin 15-deficient mice. J. Exp. Med. 191:771-80
37. Peschon JJ, Morrissey PJ, Grabstein KH, Ramsdell FJ, Maraskovsky E, et al. 1994. Early lymphocyte expansion is severely impaired in interleukin 7 receptor deficient mice. J. Exp. Med. 180:1955-60
38. Vonfreedenjeffry U, Burdach S, Murray R. 1995. Severe lymphopenia in interleukin-7 deficient mice show that interleukin-7 is a nonredundant cytokine. Exp. Hematol. 23:892
39. Roifman CM, Zhang JY, Chitayat D, Sharfe N. 2000. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood 96:2803-7
40. Leonard WJ. 2001. Cytokines and immunodeficiency diseases. Nat. Rev. Immunol. 1:200-8
41. Schwarz K, Notarangelo L, Spanopoulou E, Vezzoni P, Villa A. 1999. Recombination defects. See Ref. 91, pp. 155-66
42. Corneo B, Moshous D, Gungor T, Wulffraat N, Philippet P, et al. 2001. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood 97:2772-76
43. Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, et al. 1998. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93:885-96
44. Rieux-Laucat F, Bahadoran P, Brousse N, Selz F, Fischer A, et al. 1998. Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome. J. Clin. Invest. 102:312-21
45. Brooks EG, Filipovich AH, Padgett JW, Mamlock R, Goldblum RM. 1999. T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly. Blood 93:242-50
46. Martin JV, Willoughby PB, Giusti V, Price G, Cerezo L. 1995. The lymph node pathology of Omenn's syndrome. Am. J. Surg. Pathol. 19:1082-87
47. Soudais C, De Villartay JP, Le Deist F, Fischer A, Lisowska-Grospierre B. 1993. Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat. Genet. 3:77-81
48. Arnaiz-Villena A, Timon M, Corell A, Perez-Aciego P, Martin-Villa JM, Regueiro JR. 1992. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T lymphocyte receptor. N. Engl. J. Med. 327:529-33
49. Cale CM, Klein NJ, Novelli V, Veys P, Jones AM, Morgan G. 1997. Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45. Arch. Dis. Child 76:163-64
50. Tchilian EZ, Wallace DL, Wells RS, Flower DR, Morgan G, Beverley PC. 2001. A deletion in the gene encoding the CD45 antigen in a patient with SCID. J. Immunol. 166:1308-13
51. Hermiston ML, Xu Z, Weiss A. 2003. CD45: A critical regulator of signaling thresholds in immune cells. Annu. Rev. Immunol. 21:107-37
52. Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, et al. 1998. A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. J. Exp. Med. 188:627-34
53. Li L, Moshous D, Zhou Y, Wang J, Xie G, et al. 2002. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J. Immunol. 168:6323-29
54. Dausset J. 1958. Iso-leuko anticorps. Acta Haematol. 20:156
55. Amos DB, Bach FH. 1968. Phenotypic expressions of the major histocompatibility locus in man (HL-A): leukocyte antigens and mixed leukocyte culture reactivity. J. Exp. Med. 128:623-37
56. Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. 1968. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet 2:1366-69
57. Bortin MM, Rimm AA. 1977. Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation. JAMA 238:591-600
58. Muller-Ruchholtz W, Wottge HU, Muller-Hermelink HK. 1976. Bone marrow transplantation in rats across strong histocompatibility barriers by selective elimination of lymphoid cells in donor marrow. Transplant Proc. 8:537-41
59. Reisner Y, Itzicovitch L, Meshorer A, Sharon N. 1978. Hematopoietic stem cell transplantation using mouse bone marrow and spleen cells fractionated by lectins. Proc. Natl. Acad. Sci. USA 75:2933-36
60. Reisner Y, Kapoor N, Kirkpatrick D, Pollack MS, Cunningham-Rundles S, et al. 1983. 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 61:341-48
61. Friedrich W, Goldmann SF, Ebell W, Blutters-Sawatzki R, Gaedecke G, et al. 1985. Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors. Eur. J. Pediatr. 144:125-30
62. Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, et al. 1986. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J. Immunol. 136:2398-407
63. O'Reilly RJ, Brochstein J, Collins N, Keever C, Kapoor N, et al. 1986. 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. 51:81-86
64. Moen RC, Horowitz SD, Sondel PM, Borcherding WR, Trigg ME, et al. 1987. Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. Blood 70:664-69
65. O'Reilly RJ, Keever CA, Small TN, Brochstein J. 1989. The use of HLA-non-identical T cell depleted marrow transplants for correction of severe combined immunodeficiency disease. Immunodef. Rev. 1:273-309
66. Wijnaendts L, LeDeist F, Griscelli C, Fischer A. 1989. Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency. Blood 74:2212-19
67. Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, et al. 1990. European experience of bone marrow transplantation for severe combined immunodeficiency. Lancet 336:850-54
68. Dror Y, Gallagher R, Wara DW, Colombe BW, Merino A, et al. 1993. Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T cell depleted haplocompatible bone marrow transplantation. Blood 81:2021-30
69. Giri N, Vowels M, Ziegler JB, Ford D, Lam-Po-Tang R. 1994. HLA non-identical T cell depleted bone marrow transplantation for primary immunodeficiency diseases. Aust. NZ J. Med. 24:26-30
70. Buckley RH. 2001. Bone marrow transplantation in primary immunodeficiency. In Clinical Immunology: Principles and Practice, RR Rich, pp. 101.1-16. St. Louis: Mosby. 2nd ed.
71. Schiff SE, Kurtzberg J, Buckley RH. 1987. Studies of human bone marrow treated with soybean lectin and sheep erythrocytes: stepwise analysis of cell morphology, phenotype and function. Clin. Exp. Immunol. 68:685-93
72. International Union of Immunological Societies. 1999. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. Clin. Exp. Immunol. 118(Suppl. 1):1-28
73. Puck JM. 1994. Molecular and genetic basis of X-linked immunodeficiency disorders. J. Clin. Immunol. 14:81-89
74. Hirschhorn R. 1999. Immunodeficiency diseases due to deficiency of adenosine deaminase. See Ref. 91, pp. 121-39
75. Przepiorka D, Weisdorf D, Martin P, Klingemann HG, Beatty P, et al. 1995. Consensus conference on acute GVHD grading. Bone Marrow Transplant. 15:825-28
76. Aiuti A, Slavin S, Aker M, Ficara F, Deola S, et al. 2002. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296:2410-13
77. Friedman NJ, Schiff SE, Ward FE, Schiff RI, Buckley RH. 1991. 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. 2:111-16
78. Sarzotti M, Patel DD, Li X, Ozaki DA, Cao S, et al. 2003. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. J. Immunol. 170:2711-18
79. Ghory P, Schiff S, Buckley R. 1986. 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. 6:161-69
80. Kent EF, Crawford J, Cohen HJ, Buckley RH. 1990. 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. 10:106-14
81. Gerritsen EJA, van Tol MJD, Lankester AC, van der Weijden-Rajas CPM, Jol-van der Zjide CM, et al. 1993. Immunoglobulin levels and monoclonal gammopathies in children after bone marrow transplantation. Blood 82:3493-502
82. Clement-De Boers A, Oostdijk W, Van Weel-Sipman MH, Van den Broeck J, Wit JM, Vossen JM. 1996. Final height and hormonal function after bone marrow transplantation in children. J. Pediatr. 129:544-50
83. Haddad E, Landais P, Friedrich W, Gerritsen B, Cavazzana-Calvo M, et al. 1998. 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 91:3646-53
84. Kurtzberg J, Laughlin M, Graham ML, Smith C, Olson JF, et al. 1996. Placental blood as a source of hematopoietic stem cells for transplantation into unrelated recipients. N. Engl. J. Med. 335:157-66
85. Gluckman E, Rocha V, Boyer-Chammard A, Locatelli F, Arcese W, et al. 1997. Outcome of cord blood transplantation from related and unrelated donors. N. Engl. J. Med. 337:373-81
86. Knutsen AP, Wall DA. 2000. Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience. J. Clin. Immunol. 20:466-76
87. Flake AW, Roncarolo MG, Puck JM, Almeida-Porada G, Evans MI, et al. 1996. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N. Engl. J. Med. 335:1806-10
88. Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, et al. 1996. In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1). Lancet 348:1484-87
89. Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, et al. 1999. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical T cell-depleted bone marrow transplantation. J. Pediatr. 134:740-48
90. O'Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, et al. 2001. Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transplant. 27:703-9
91. Smogorzewska EM, Brooks J, Annett G, Kapoor N, Crooks GM, et al. 2000. T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency. Arch. Immunol. Ther. Exp. 48:111-18
92. Cavazzana-Calvo M, Hacein-Bey S, de Basile G, Gross F, Yvon E, et al. 2000. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288:669-72
93. Hacein-Bey-Abina S, Le Deist F, Carlier F, Bouneaud C, Hue C, et al. 2002. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346:1185-93
94. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, McCormack MP, Wulffraat N, et al. 2003. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302:415-419
95. Rabbitts TH. 1998. LMO T-cell translocation oncogenes typify genes activated by chromosomal translocations that alter transcription and developmental processes. Genes Dev. 12:2651-57
96. Handgretinger R, Klingebiel T, Lang P, Schumm M, Neu S, et al. 2001. Mega-dose transplantation of purified peripheral blood CD34+ progenitor cells from HLA-mismatched parental donors in children. Bone Marrow Transplant. 27:777-83
97. Ochs HD, Smith CIE, Puck JM, eds. 1999. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York/Oxford: Oxford Univ. Press