Immune defects in Fanconi anemia

Critical Reviews in Immunology

Volumn 26, Issue 1, 2006, Pages 81-96

  Fagerlie, Sara R ^a   Bagby, Grover C ^b,c  

^a Fred Hutchinson Cancer Research Center   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c PORTLAND VA MEDICAL CENTER   (United States)

Author keywords

Aplastic anemia; Chromosomal instability; Immunodeficiency; T cell; Tumor surveillance

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW CELL; BONE MARROW DEPRESSION; CELL COMPARTMENTALIZATION; CELL SURVIVAL; CHROMOSOMAL INSTABILITY; DNA CROSS LINKING; FANCONI ANEMIA; GENETIC DISORDER; HEMATOPOIETIC STEM CELL; HUMAN; IMMUNE DEFICIENCY; IMMUNE SYSTEM; NONHUMAN; PREVALENCE; PRIORITY JOURNAL; REVIEW;

EID: 33745225183     PISSN: 10408401     EISSN: None     Source Type: Journal    
DOI: 10.1615/critrevimmunol.v26.i1.40     Document Type: Review

References (138)

1. Alter BP. Fanconi's anaemia and its variability. Br J Haematol. 1993;85(1):9-14.
2. Giampietro PF, Verlander PC, Davis JG, Auerbach AD. Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study. Am J Med Genet. 1997;68(1):58-61.
3. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics. 1993;91(6):1116-20.
4. Schroeder TM, Anschutz F, Knopp A. [Spontaneous chromosome abberrations in familial panmyelopathy]. Humangenetik. 1964;1:194-6.
5. Sasaki MS, Tonomura A. A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res. 1973;33(8):1829-36.
6. Lo TF Jr, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet. 1996;14(3):320-3.
7. Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet. 2004;36(11):1219-24.
8. Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 1992;358(6385):434.
9. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297(5581):606-9.
10. Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, Thayer M, Cox B, Olson S, D'Andrea AD, Moses R, Grompe M. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell. 2001;7(2):241-8.
11. Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M. The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Am J Hum Genet. 1999;64(5):1400-5.
12. de Winter JP, Rooimans MA, van der WL, van Berkel CG, Alon N, Bosnoyan-Collins L, de Groot J, Zhi Y, Waisfisz Q, Pronk JC, Arwert F, Mathew CG, Scheper RJ, Hoatlin ME, Buchwald M, Joenje H. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000;24(1):15-6.
13. de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet. 1998;20(3):281-3.
14. Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet. 2003;35(2):165-70.
15. Thompson LH, Hinz JM, Yamada NA, Jones NJ. How Fanconi anemia proteins promote the four Rs: replication, recombination, repair, and recovery. Environ Mol Mutagen. 2005;45(2-3):128-42.
16. Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG. Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum Mol Genet. 2001;10(4):423-9.
17. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell. 2001;7(2):249-62.
18. Qiao F, Moss A, Kupfer GM. Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner. J Biol Chem. 2001;276(26):23391-6.
19. Alter BP. Hematologic abnormalities in Fanconi anemia. Blood. 1995;85(4):1148-9.
20. Lavin MF, Shiloh Y. The genetic defect in Ataxia-Telangiectasia. Annu Rev Immunol. 1997;15:177-202.
21. Auerbach AD, Verlander PC. Disorders of DNA replication and repair. Curr Opin Pediatr. 1997;9(6):600-16.
22. Segal GM, Magenis RE, Brown M, Keeble W, Smith TD, Heinrich MC, Bagby GC. Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. J Clin Invest. 1994;94(2):846-52.
23. Rathbun RK, Christianson TA, Faulkner GR, Jones G, Keeble W, O'Dwyer M, Bagby GC Jr. Interferon-gamma-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family members. Blood. 2000;96(13):4204-11.
24. Rathbun RK, Faulkner GR, Ostroski MH, Christianson TA, Hughes G, Jones G, Faulkner GR, O'Dwyer M, Bagby GC Jr. Inactivation of the Fanconi anemia group C gene augments interferon-gamma-induced apoptotic responses in hematopoietic cells. Blood. 1997;90(3):974-85.
25. Pang Q, Keeble W, Diaz J, Christianson TA, Fagerlie S, Rathbun K, Faulkner GR, O'Dwyer M, Bagby GC Jr. Role of double-stranded RNA-dependent protein kinase in mediating hypersensitivity of Fanconi anemia complementation group C cells to interferon gamma, tumor necrosis factor-alpha, and double-stranded RNA. Blood. 2001;97(6):1644-52.
26. Haneline LS, Broxmeyer HE, Cooper S, Hangoc G, Carreau M, Buchwald M, Clapp DW. Multiple inhibitory cytokines induce deregulated progenitor growth and apoptosis in hematopoietic cells from Fac-/- mice. Blood. 1998;91(11):4092-8.
27. Fagerlie S, Lensch MW, Pang Q, Bagby GC Jr. The Fanconi anemia group C gene product: signaling functions in hematopoietic cells. Exp Hematol. 2001;29(12):1371-81.
28. Pang Q, Christianson TA, Keeble W, Diaz J, Faulkner GR, Reifsteck C, et al. The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. Blood. 2001;98(5):1392-1401.
29. Rogers PC, Desai F, Karabus CD, Hartley PS, Fisher RM. Presentation and outcome of 25 cases of Fanconi's anemia. Am J Pediatr Hematol Oncol. 1989;11(2):141-5.
30. + Th cell subsets in Fancc-/- mice. J Immunol. 2004;173(6):3863-70.
31. Dufour C, Corcione A, Svahn J, Haupt R, Poggi V, Beka'ssy AN, Scime R, Pistorio A, Pistoia V. TNF-alpha and IFN-gamma are overexpressed in the bone marrow of Fanconi anemia patients and TNF-alpha suppresses erythropoiesis in vitro. Blood. 2003;102(6):2053-9.
32. Young NS. Hematopoietic cell destruction by immune mechanisms in acquired aplastic anemia. Semin Hematol. 2000;37(1):3-14.
33. Young NS. Aplastic anaemia. Lancet. 1995;346(8969):228-32.
34. Froom P, Aghai E, Dobinsky JB, Quitt M, Lahat N. Reduced natural killer activity in patients with Fanconi's anemia and in family members. Leuk Res. 1987;11(2):197-9.
35. Hersey P, Edwards A, Lewis R, Kemp A, McInnes J. Deficient natural killer cell activity in a patient with Fanconi's anaemia and squamous cell carcinoma. Association with defect in interferon release. Clin Exp Immunol. 1982;48(1):205-12.
36. Lebbe C, Pinquier L, Rybojad M, Chomienne C, Ochonisky S, Miclea JM, Gluckman E, Morel P. Fanconi's anaemia associated with multicentric Bowen's disease and decreased NK cytotoxicity. Br J Dermatol. 1993;129(5):615-8.
37. Heusel JW, Ballas ZK. Natural killer cells: emerging concepts in immunity to infection and implications for assessment of immunodeficiency. Curr Opin Pediatr. 2003;15(6):586-93.
38. Roxo P Jr, Arruda LK, Nagao AT, Carneiro-Sampaio MM, Ferriani VP. Allergic and immunologic parameters in patients with Fanconi's anemia. Int Arch Allergy Immunol. 2001;125(4):349-55.
39. Schultz JC, Shahidi NT. Tumor necrosis factor-alpha overproduction in Fanconi's anemia. Am J Hematol. 1993;42(2):196-201.
40. Trinchieri G, Kobayashi M, Rosen M, Loudon R, Murphy M, Perussia B. Tumor necrosis factor and lymphotoxin induce differentiation of human myeloid cell lines in synergy with immune interferon. J Exp Med. 1986;164(4):1206-25.
41. Perussia B, Kobayashi M, Rossi ME, Anegon I, Trinchieri G. Immune interferon enhances functional properties of human granulocytes: role of Fc receptors and effect of lymphotoxin, tumor necrosis factor, and granulocyte-macrophage colony-stimulating factor. J Immunol. 1987;138(3):765-74.
42. Pedersen FK, Hertz H, Lundsteen C, Platz P, Thomsen M. Indication of primary immune deficiency in Fanconi's anemia. Acta Paediatr Scand. 1977;66(6):745-51.
43. Standen GR, Hughes IA, Geddes AD, Jones BM, Wardrop CA. Myelodysplastic syndrome with trisomy 8 in an adolescent with Fanconi anaemia and selective IgA deficiency. Am J Hematol. 1989;31(4):280-3.
44. Castello G, Gallo C, Napolitano M, Ascierto PA. Immunological phenotype analysis of patients with Fanconi's anaemia and their family members. Acta Haematol. 1998;100(1):39-43.
45. MacMillan ML, Auerbach AD, Davies SM, Defor TE, Gillio A, Giller R, et al. Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial. Br J Haematol. 2000;109(1):121-9.
46. Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, et al. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood. 1996;88(1):49-58.
47. Otsuki T, Nagakura S, Wang J, Bloom M, Grompe M, Liu JM. Tumor necrosis factor-alpha and CD95 ligation suppress erythropoiesis in Fanconi anemia C gene knockout mice. J Cell Physiol. 1999;179(1):79-86.
48. Pestka S, Langer J, Zoon K, Samuel CE. Interferons and their actions. Annu Rev Biochem. 1987;56:727.
49. Pearl-Yafe M, Halperin D, Scheuerman O, Fabian I. The p38 pathway partially mediates caspase-3 activation induced by reactive oxygen species in Fanconi anemia C cells. Biochem Pharmacol. 2004;67(3):539-46.
50. Fagerlie SR, Diaz J, Christianson TA, McCartan K, Keeble W, Faulkner GR, Bagby GC. Functional correction of FA-C cells with FANCC suppresses the expression of interferon gamma-inducible genes. Blood. 2001;97(10):3017-24.
51. Li Y, Youssoufian H. MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups. J Clin Invest. 1997;100(11):2873-80.
52. Otsuki T, Young DB, Sasaki DT, Pando MP, Li J, Manning A, Hoekstra M, Hoatlin ME, Mercurio F, Liu JM. Fanconi anemia protein complex is a novel target of the IKK signalsome. J Cell Biochem. 2002;86(4):613-23.
53. Kontou M, Adelfalk C, Hirsch-Kauffmann M, Schweiger M. Suboptimal action of NF-kappaB in Fanconi anemia cells results from low levels of thioredoxin. Biol Chem. 2003;384(10-11):1501-7.
54. Saitoh M, Nishitoh H, Fujii M, Takeda K, Tobiume K, Sawada Y, Kawabata M, Miyazono K, Ichijo H. Mammalian thioredoxin is a direct inhibitor of apoptosis signal-regulating kinase (ASK) 1. EMBO J. 1998;17(9):2596-606.
55. Saadatzadeh MR, Bijangi-Vishehsaraei K, Hong P, Bergmann H, Haneline LS. Oxidant hypersensitivity of Fanconi anemia type C-deficient cells is dependent on a redox-regulated apoptotic pathway. J Biol Chem. 2004;279(16):16805-12.
56. Zanier R, Briot D, Dugas du Villard JA, Sarasin A, Rosselli F. Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation. Oncogene. 2004;23(29):5004-13.
57. Futaki M, Watanabe S, Kajigaya S, Liu JM. Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment. Biochem Biophys Res Commun. 2001;281(2):347-51.
58. Gil J, Esteban M. Induction of apoptosis by the dsRNA-dependent protein kinase (PKR): mechanism of action. Apoptosis. 2000;5(2):107-14.
59. Zhang X, Li J, Sejas DP, Rathbun KR, Bagby GC, Pang Q. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). J Biol Chem. 2004;279(42):43910-9.
60. Deb A, Haque SJ, Mogensen T, Silverman RH, Williams BR. RNA-dependent protein kinase PKR is required for activation of NF-kappa B by IFN-gamma in a STAT1-independent pathway. J Immunol. 2001;166(10):6170-80.
61. Bergmann M, Garcia-Sastre A, Carnero E, Pehamberger H, Wolff K, Palese P, Muster, T. Influenza virus NS1 protein counteracts PKR-mediated inhibition of replication. J Virol. 2000;74(13):6203-6.
62. Pang Q, Keeble W, Christianson TA, Faulkner GR, Bagby GC. FANCC interacts with Hsp70 to protect hematopoietic cells from IFN-gamma/TNF-alpha-mediated cytotoxicity. EMBO J. 2001;20(16):4478-89.
63. Pang Q, Christianson TA, Keeble W, Koretsky T, Bagby GC. The anti-apoptotic function of Hsp70 in the interferon-inducible double-stranded RNA-dependent protein kinase-mediated death signaling pathway requires the Fanconi anemia protein, FANCC. J Biol Chem. 2002;277(51):49638-43.
64. Pang Q, Christianson TA, Koretsky T, Carlson H, David L, Keeble W, Faulkner GR, Speckhart A, Bagby GC. Nucleophosmin interacts with and inhibits the catalytic function of eukaryotic initiation factor 2 kinase PKR. J Biol Chem. 2003;278(43):41709-17.
65. Nagai K, Wong AH, Li S, Tam WN, Cuddihy AR, Sonenberg N, Mathews MB, Hiscott J, Wainberg MA, Koromilas AE. Induction of CD4 expression and human immunodeficiency virus type 1 replication by mutants of the interferon-inducible protein kinase PKR. J Virol. 1997;71(2):1718-25.
66. + T cell function by the IFN-induced and double-stranded RNA-activated kinase PKR. J Immunol. 2000;165(12):6896-901.
67. Grolleau A, Kaplan MJ, Hanash SM, Beretta L, Richardson B. Impaired translational response and increased protein kinase PKR expression in T cells from lupus patients. J Clin Invest. 2000;106(12):1561-8.
68. Joenje H, Arwert F, Eriksson AW, de Koning H, Oostra AB. Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia. Nature. 1981;290(5802):142-3.
69. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001;2(6):446-57.
70. Tower PA, Christianson TA, Peters ST, Ostroski ML, Hoatlin ME, Zigler AJ, Heinrich MC, Rathbun RK, Keeble W, Faulkner GR, Bagby GC Jr. Expression of the Fanconi anemia group C gene in hematopoietic cells is not influenced by oxidative stress, cross-linking agents, radiation, heat, or mitotic inhibitory factors. Exp Hematol. 1998;26(1):19-26.
71. Liu H, Nishitoh H, Ichijo H, Kyriakis JM. Activation of apoptosis signal-regulating kinase 1 (ASK1) by tumor necrosis factor receptor-associated factor 2 requires prior dissociation of the ASK1 inhibitor thioredoxin. Mol Cell Biol. 2000;20(6):2198-208.
72. Darnell JEJ, Kerr IM, Stark GR. Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins. Science. 1994;264(5164):1415-21.
73. Pang Q, Fagerlie S, Christianson TA, Keeble W, Faulkner G, Diaz J, Rathbun RK, Bagby GC. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol Cell Biol. 2000;20(13):4724-35.
74. Rodig SJ, Meraz MA, White JM, Lampe PA, Riley JK, Arthur CD, King KL, Sheehan KC, Yin L, Pennica D, Johnson EM Jr, Schreiber RD. Disruption of the Jak1 gene demonstrates obligatory and non-redundant roles of the Jaks in cytokine-induced biologic responses. Cell. 1998;93(3):373-83.
75. Thomis DC, Gurniak CB, Tivol E, Sharpe AH, Berg LJ. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science. 1995;270(5237):794-7.
76. Thomis DC, Lee W, Berg LJ. T cells from Jak3-deficient mice have intact TCR signaling, but increased apoptosis. J Immunol. 1997;159(10):4708-19.
77. Baird AM, Thomis DC, Berg LJ. T cell development and activation in Jak3-deficient mice. J Leukoc Biol. 1998;63(6):669-77.
78. Durbin JE, Hackenmiller R, Simon MC, Levy DE. Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease. Cell. 1996;84(3):443-50.
79. Meraz MA, White JM, Sheehan KC, Bach EA, Rodig SJ, Dighe AS, Kaplan DH, Riley JK, Greenlund AC, Campbell D, Carver-Moore K, DuBois RN, Clark R, Aguet M, Schreiber RD. Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway. Cell. 1996;84(3):431-42.
80. Park C, Li S, Cha E, Schindler C. Immune response in Stat2 knockout mice. Immunity. 2000;13(6):795-804.
81. Kaplan MH, Schindler U, Smiley ST, Grusby MJ. Stat6 is required for mediating responses to IL-4 and for development of Th2 cells. Immunity. 1996;4(3):313-9.
82. Thierfelder Thierfelder WE, van Deursen JM, Yamamoto K, Tripp RA, Sarawar SR, Carson RT, Sangster MY, Vignali DA, Doherty PC, Grosveld GC, Ihle JN. Requirement for Stat4 in interleukin-12-mediated responses of natural killer and T cells. Nature. 1996;382(6587):171-4.
83. Kaplan MH, Sun YL, Hoey T, Grusby MJ. Impaired IL-12 responses and enhanced development of Th2 cells in Stat4-deficient mice. Nature. 1996;382(6587):174-7.
84. Takeda K, Tanaka T, Shi W, Matsumoto M, Minami M, Kashiwamura S, Nakanishi K, Yoshida N, Kishimoto T, Akira S. Essential role of Stat6 in IL-4 signalling. Nature. 1996;380(6575):627-30.
85. Karaghiosoff M, Neubauer H, Lassnig C, Kovarik P, Schindler H, Pircher H, McCoy B, Bogdan C, Decker T, Brem G, Pfeffer K, Muller M. Partial impairment of cytokine responses in Tyk2-deficient mice. Immunity. 2000;13(4):549-60.
86. Teglund S, McKay C, Schuetz E, van Deursen JM, Stravopodis D, Wang D, et al. Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses. Cell. 1998;93(5):841-50.
87. Imada K, Bloom ET, Nakajima H, Horvath-Arcidiacono JA, Udy GB, Davey HW, Leonard WJ. Stat5b is essential for natural killer cell-mediated proliferation and cytolytic activity. J Exp Med. 1998;188(11):2067-74.
88. Takaoka A, Mitani Y, Suemori H, Sato M, Yokochi T, Noguchi S, Tanaka N, Taniguchi T. Cross talk between interferon-gamma and -alpha/beta signaling components in caveolar membrane domains. Science. 2000;288(5475):2357-60.
89. Shimoda K, Kato K, Aoki K, Matsuda T, Miyamoto A, Shibamori M, et al. Tyk2 plays a restricted role in IFN alpha signaling, although it is required for IL-12-mediated T cell function. Immunity. 2000;13(4):561-71.
90. Farrar JD, Smith JD, Murphy TL, Leung S, Stark GR, Murphy KM. Selective loss of type I interferon-induced STAT4 activation caused by a minisatellite insertion in mouse Stat2. Nat Immunol. 2000;1(1):65-9.
91. Abkowitz JL, Robinson AE, Kale S, Long MW, Chen J. Mobilization of hematopoietic stem cells during homeostasis and after cytokine exposure. Blood. 2003;102(4):1249-53.
92. Hoatlin ME, Zhi Y, Ball H, Silvey K, Melnick A, Stone S, Arai S, Hawe N, Owen G, Zelent A, Licht JD. A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. Blood. 1999;94(11):3737-47.
93. Lin W, Lai CH, Tang CJ, Huang CJ, Tang TK. Identification and gene structure of a novel human PLZF-related transcription factor gene, TZFP. Biochem Biophys Res Commun. 1999;264(3):789-95.
94. Miaw SC, Choi A, Yu E, Kishikawa H, Ho IC. ROG, repressor of GATA, regulates the expression of cytokine genes. Immunity. 2000;12(3):323-33.
95. Piazza F, Costoya JA, Merghoub T, Hobbs RM, Pandolfi PP. Disruption of PLZP in mice leads to increased T-lymphocyte proliferation, cytokine production, and altered hematopoietic stem cell homeostasis. Mol Cell Biol. 2004;24(23):10456-69.
96. Ball HJ, Melnick A, Shaknovich R, Kohanski RA, Licht JD. The promyelocytic leukemia zinc finger (PLZF) protein binds DNA in a high molecular weight complex associated with cdc2 kinase. Nucleic Acids Res. 1999;27(20):4106-13.
97. Tang CJ, Chuang CK, Hu HM, Tang TK. The zinc finger domain of Tzfp binds to the tbs motif located at the upstream flanking region of the Aie1 (aurora-C) kinase gene. J Biol Chem. 2001;276(22):19631-9.
98. Grusby MJ. Stat4- and Stat6-deficient mice as models for manipulating T helper cell responses. Biochem Soc Trans. 1997;25(2):359-60.
99. Diehl S, Anguita J, Hoffmeyer A, Zapton T, Ihle JN, Fikrig E, Rincon M. Inhibition of Th1 differentiation by IL-6 is mediated by SOCS1. Immunity. 2000;13(6):805-15.
100. Broxmeyer HE, Bruns HA, Zhang S, Cooper S, Hangoc G, McKenzie AN, Dent AL, Schindler U, Naeger LK, Hoey T, Kaplan MH. Th1 cells regulate hematopoietic progenitor cell homeostasis by production of oncostatin M. Immunity. 2002;16(6):815-25.
101. Persing DH, Prendergast FG. Infection, immunity, and cancer. Arch Pathol Lab Med. 1999;123(11):1015-22.
102. + T cells compared with lymphocytes from tumor draining lymph nodes and peripheral blood in patients with cancer of the uterine cervix. Gynecol Oncol. 2001;81(3):424-32.
103. Clerici M, Shearer GM, Clerici E. Cytokine dysregulation in invasive cervical carcinoma and other human neoplasias: time to consider the TH1/TH2 paradigm. J Natl Cancer Inst. 1998;90(4):261-3.
104. Clerici M, Clerici E, Shearer GM. The tumor enhancement phenomenon: reinterpretation from a Th1/Th2 perspective. J Natl Cancer Inst. 1996;88(7):461-2.
105. Costello RT, Fauriat C, Sivori S, Marcenaro E, Olive D. NK cells: innate immunity against hematological malignancies? Trends Immunol. 2004;25(6):328-33.
106. Fauriat C, Marcenaro E, Sivori S, Rey J, Gastaut JA, Moretta A, Olive D, Costello RT. Natural killer cell-triggering receptors in patients with acute leukaemia. Leuk Lymphoma. 2003;44(10):1683-9.
107. Tahara H, Lotze MT. Antitumor effects of interleukin-12 (IL-12): applications for the immunotherapy and gene therapy of cancer. Gene Ther. 1995;2(2):96-106.
108. Osaki T, Peron JM, Cai Q, Okamura H, Robbins PD, Kurimoto M, Lotze MT, Tahara H. IFN-gamma-inducing factor/IL-18 administration mediates IFN-gamma- and IL-12-independent antitumor effects. J Immunol. 1998;160(4):1742-9.
109. Coughlin CM, Salhany KE, Gee MS, LaTemple DC, Kotenko S, Ma X, Lee WM. Tumor cell responses to IFNgamma affect tumorigenicity and response to IL-12 therapy and antiangiogenesis. Immunity. 1998;9(1):25-34.
110. Coughlin CM, Salhany KE, Wysocka M, Aruga E, Kurzawa H, Chang AE, Hunter CA, Fox JC, Trinchieri G, Lee WM. Interleukin-12 and interleukin-18 synergistically induce murine tumor regression which involves inhibition of angiogenesis. J Clin Invest. 1998;101(6):1441-52.
111. Kaplan DH, Shankaran V, Dighe AS, Stockert E, Aguet M, Old LJ, Schreiber RD. Demonstration of an interferon gamma-dependent tumor surveillance system in immunocompetent mice. Proc Natl Acad Sci U S A. 1998;95(13):7556-61.
112. Alter BP, Rosenberg PS. Cancer in Fanconi's anemia: a North American pilot survey. Am Soc Hematol. 2001;3257:Abstract.
113. Alter BP. Fanconi's anemia and malignancies. Am J Hematol. 1996;53(2):99-110.
114. Alter BP, Greene MH, Velazquez I, Rosenberg PS. Cancer in Fanconi anemia. Blood. 2003;101(5):2072.
115. Paz IB, Cook N, Odom-Maryon T, Xie Y, Wilczynski SP. Human papillomavirus (HPV) in head and neck cancer. An association of HPV 16 with squamous cell carcinoma of Waldeyer's tonsillar ring. Cancer. 1997;79(3):595-604.
116. Chang F, Syrjanen S, Shen Q, Ji HX, Syrjanen K. Human papillomavirus (HPV) DNA in esophageal precancer lesions and squamous cell carcinomas from China. Int J Cancer. 1990;45(1):21-5.
117. Gissmann L. Linking HPV to cancer. Clin Obstet Gynecol. 1989;32(1):141-7.
118. Campo MS. HPV and cancer: the story unfolds. Trends Microbiol. 1998;6(11):424-6.
119. Santin AD, Hermonat PL, Ravaggi A, Chiriva-Internati M, Zhan D, Pecorelli S, Parham GP, Cannon MJ. Induction of human papillomavirus- specific CD4(+) and CD8(+) lymphocytes by E7-pulsed autologous dendritic cells in patients with human papillomavirus type 16- and 18-positive cervical cancer. J Virol. 1999;73(7):5402-10.
120. van der Burg SH, Ressing ME, Kwappenberg KM, de Jong A, Straathof K, de Jong J, Geluk A, van Meijgaarden KE, Franken KL, Ottenhoff TH, Fleuren GJ, Kenter G, Melief CJ, Offringa R. Natural T-helper immunity against human papillomavirus type 16 (HPV16) E7-derived peptide epitopes in patients with HPV16-positive cervical lesions: identification of 3 human leukocyte antigen class II-restricted epitopes. Int J Cancer. 2001;91(5):612-8.
121. Kutler DI, Wreesmann VB, Goberdhan A, Ben-Porat L, Satagopan J, Ngai I, Huvos AG, Giampietro P, Levran O, Pujara K, Diotti R, Carlson D, Huryn LA, Auerbach AD, Singh B. Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst. 2003;95(22):1718-21.
122. van Zeeburg HJ, Snijders PJ, Joenje H, Brakenhoff RH. Re: Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst. 2004;96(12): 968-9.
123. van Zeeburg HJ, Snijders PJ, Pals G, Hermsen MA, Rooimans MA, Bagby G, Soulier J, Gluckman E, Wennerberg J, Leemans CR, Joenje H, Brakenhoff RH. Generation and molecular characterization of head and neck squamous cell lines of Fanconi anemia patients. Cancer Res. 2005;65(4):1271-6.
124. Costello RT, Sivori S, Marcenaro E, Lafage-Pochitaloff M, Mozziconacci MJ, Reviron D, Gastaut JA, Pende D, Olive D, Moretta A. Defective expression and function of natural killer cell-triggering receptors in patients with acute myeloid leukemia. Blood. 2002;99(10):3661-7.
125. Costello RT, Fauriat C, Rey J, Gastaut JA, Olive D. Immunobiology of haematological malignant disorders: the basis for novel immunotherapy protocols. Lancet Oncol. 2004;5(1):47-55.
126. Pang Q, Christianson TA, Keeble W, Bagby G. The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. Blood. 2002;98:1392-1401.
127. Miyatake S, Arai N, Arai K. Chromatin remodeling and T helper subset differentiation. IUBMB Life. 2000;49(6):473-8.
128. Lee HJ, Takemoto N, Kurata H, Kamogawa Y, Miyatake S, O'Garra A, Arai N. GATA-3 induces T helper cell type 2 (Th2) cytokine expression and chromatin remodeling in committed Th1 cells. J Exp Med. 2000;192(1):105-15.
129. Takemoto N, Arai K, Miyatake S. Cutting edge: the differential involvement of the N-finger of GATA-3 in chromatin remodeling and transactivation during Th2 development. J Immunol. 2002;169(8):4103-7.
130. Yamashita M, Ukai-Tadenuma M, Miyamoto T, Sugaya K, Hosokawa H, Hasegawa A, Kimura M, Taniguchi M, DeGregori J, Nakayama T. Essential role of GATA3 for the maintenance of type 2 helper T (Th2) cytokine production and chromatin remodeling at the Th2 cytokine gene loci. J Biol Chem. 2004;279(26):26983-90.
131. Smith J, Andrau JC, Kallenbach S, Laquerbe A, Doyen N, Papadopoulo D. Abnormal rearrangements associated with V(D)J recombination in Fanconi anemia [In Process Citation]. J Mol Biol. 1998;281(5):815-25.
132. Haneline LS, Gobbett TA, Ramani R, Carreau M, Buchwald M, Yoder MC, Clapp DW. Loss of FancC function results in decreased hematopoietic stem cell repopulating ability. Blood. 1999;94(1):1-8.
133. + primitive hematopoietic cells and shows reduced reconstruction ability. Exp Hematol. 1999;27(11):1667-74.
134. Kruyt FA, Hoshino T, Liu JM, Joseph P, Jaiswal AK, Youssoufian H. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P450 reductase. Blood. 1998;92(9):3050-6.
135. Cumming RC, Lightfoot J, Beard K, Youssoufian H, O'Brien PJ, Buchwald M. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat Med. 2001;7(7):814-20.
136. Hadjur S, Ung K, Wadsworth L, Dimmick J, Rajcan-Separovic E, Scott RW, Buchwald M, Jirik FR. Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase. Blood. 2001;98(4):1003-11.
137. Ruppitsch W, Meisslitzer C, Hirsch-Kauffmann M, Schweiger M. Overexpression of thioredoxin in Fanconi anemia fibroblasts prevents the cytotoxic and DNA damaging effect of mitomycin C and diepoxybutane. FEBS Lett. 1998;422(1):99-102.
138. Zhang X, Li J, Sejas DP, Pang Q. Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells. Blood. 2005;106(1):75-85.