T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

Blood

Volumn 103, Issue 3, 2004, Pages 1020-1025

  Piliero, Lisa M ^a   Sanford, Amy N ^a   McDonald McGinn, Donna M ^a   Zackai, Elaine H ^a   Sullivan, Kathleen E ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHOP   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CD45 ANTIGEN; T LYMPHOCYTE RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIGEORGE SYNDROME; HOMEOSTASIS; HUMAN; HUMAN CELL; HYPOPARATHYROIDISM; IMMUNE DEFICIENCY; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MEMORY CELL; PRIORITY JOURNAL; T LYMPHOCYTE; TELOMERE; THYMUS DISEASE; THYMUS HYPOPLASIA; VELOCARDIOFACIAL SYNDROME;

EID: 1642581677     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-08-2824     Document Type: Article

References (44)

1. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992;50:924-933.
2. Jawad AF, McDonald-McGinn DM, Zackai E, Sullivan KE, Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715-723.
3. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. 1979;94:883-890.
4. Bastian J, Law S, Vogler L, et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr. 1989;115:391-396.
5. Barrett DJ, Ammann AJ, Wara DW, et al. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981;6:1-6.
6. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798-804.
7. Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr. 1995;127:231-237.
8. Smith CA, Driscoll DA, Emanuel BS, et al. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol. 1998;5:415-417.
9. Gennery AR, Barge D, O'Sullivan JJ, et al. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002;86:422-425.
10. DiGeorge AM. Congenital absence of the thymus and its immunological consequences: concurrance with congenital hypothyroidism. Birth Defects. 1968;4:116-121.
11. McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999;10:11-24.
12. Sullivan KE, Jawad AF, Randall P, et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol. 1998;84:141-146.
13. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998;35:789-790.
14. Sempowski G, Thomasch J, Gooding M, et al. Effect of thymectomy on human peripheral blood T cell pools in myasthenia gravis. J Immunol. 2001;166:2808-2817.
15. Douek DC, McFarland RD, Keiser PH, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature. 1998;396:690-694.
16. Douek DC, Koup RA, McFarland RD, Sullivan JL, Luzuriaga K. Effect of HIV on thymic function before and after antiretroviral therapy in children. J Infect Dis. 2000;181:1479-1482.
17. Claret EJ, Alyea EP, Orsini E, et al. Characterization of T cell repertoire in patients with graft-versus-leukemia after donor lymphocyte infusion. J Clin Invest. 1997;100:855-866.
18. Maus MV, Thomas AK, Leonard DG, et al. Ex vivo expansion of polyclonal and antigen-specific cytotoxic T lymphocytes by artificial APCs expressing ligands for the T-cell receptor, CD28 and 4-1 BB. Nat Biotechnol. 2002;20:143-148.
19. Shearer WT, Rosenblatt HM, Gelman RS, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the PACTG P1009 study. J Allergy Clin Immunol. In press.
20. Weng NP, Levine BL, June CH, Hodes RJ. Human naive and memory T lymphocytes differ in telomeric length and replicative potential. Proc Natl Acad Sci U S A. 1995;92:11091-11094.
21. Allsopp RC, Vaziri H, Patterson C, et al. Telomere length predicts replicative capacity of human fibroblasts. Proc Natl Acad Sci U S A. 1992;89:10114-10118.
22. Vaziri H, Schachter F, Uchida I, et al. Loss of telomeric DNA during aging of normal trisomy 21 human lymphocytes. Am J Hum Genet. 1993;52:661-667.
23. Chang E, Harley CB. Telomere length and replicative aging in human vascular tissues. Proc Natl Acad Sci U S A. 1995;92:11190-11194.
24. Harley CB, Futcher AB, Greider CW. Telomeres shorten during ageing of human fibroblasts. Nature. 1990;345:458-460.
25. Almeida AR, Borghans JA, Freitas AA. T cell homeostasis: thymus regeneration and peripheral T cell restoration in mice with a reduced fraction of competent precursors. J Exp Med. 2001;194:591-599.
26. Berzins SP, Godfrey DI, Miller JF, Boyd RL. A central role for thymic emigrants in peripheral T cell homeostasis. Proc Natl Acad Sci U S A. 1999;96:9787-9791.
27. Berzins SP, Boyd RL, Miller JF. The role of the thymus and recent thymic migrants in the maintenance of the adult peripheral lymphocyte pool. J Exp Med. 1998;187:1839-1848.
28. Leuchars E, Wallis VJ, Doenhoff MJ, Davies AJ, Kruger J. Studies of hyperthymic mice, I: the influence of multiple thymus grafts on the size of the peripheral T cell pool and immunological performance. Immunology. 1978;35:801-809.
29. Wallis VJ, Leuchars E, Davies AJ. Studies of hyperthymic mice, li: the influence of thymus grafts on cell flow through the peripheral T-cell pool. Immunology. 1978;35:1037-1043.
30. Miller JF, Mitchell GF. Cell to cell interaction in the immune response. Transplant Proc. 1969;1:535-538.
31. Swain SL, Bradley LM, Croft M, et al. Helper T-cell subsets: phenotype, function and the role of lymphokines in regulating their development. Immunol Rev. 1991;123:115-144.
32. Goldrath AW, Bogatzki LY, Bevan MJ. Naive T cells transiently acquire a memory-like phenotype during homeostasis-driven proliferation [comment]. J Exp Med. 2000;192:557-564.
33. Cho BK, Rao VP, Ge Q, Eisen HN, Chen J. Homeostasis-stimulated proliferation drives naive T cells to differentiate directly into memory T cells [comment]. J Exp Med. 2000;192:549-556.
34. Murali-Krishna K, Ahmed R. Cutting edge: naive T cells masquerading as memory cells. J Immunol. 2000;165:1733-1737.
35. Kieper WC, Jameson SC. Homeostatic expansion and phenotypic conversion of naive T cells in response to self peptide/MHC ligands. Proc Natl Acad Sci U S A. 1999;96:13306-13311.
36. Goldrath AW, Bevan MJ. Low-affinity ligands for the TCR drive proliferation of mature CD8+ T cells in lymphopenic hosts. Immunity. 1999;11:183-190.
37. Ernst B, Lee DS, Chang JM, Sprent J, Surh CD. The peptide ligands mediating positive selection in the thymus control T cell survival and homeostatic proliferation in the periphery. Immunity. 1999;11:173-181.
38. Oehen S, Brduscha-Riem K. Naive cytotoxic T lymphocytes spontaneously acquire effector function in lymphocytopenic recipients: a pitfall for T cell memory studies? Eur J Immunol. 1999;29:608-614.
39. Jameson SC. Maintaining the norm: T-cell homeostasis. Nat Rev Immunol. 2002;2:547-556.
40. + T cells. Blood. 2003;101:2711-2720.
41. Pierdominici M, Marziali M, Giovannetti A, et al. T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Clin Exp Immunol. 2000;121:127-132.
42. Pahwa S, Chitnis V, Mitchell RM, et al. CD4(+) and CD8(+) T cell receptor repertoire perturbations with normal levels of T cell receptor excision circles in HIV-infected, therapy-naive adolescents. AIDS Res Hum Retroviruses. 2003;19:487-495.
43. + T cells in centenarians and in long term T cell cultures: a possible cause for both in vivo and in vitro immunosenescence. Exp Gerontol. 1994;29:601-609.
44. Dudley ME, Wunderlich JR, Robbins PF, et al. Cancer regression and autoimmunity in patients after clonal repopulation with antitumor lymphocytes. Science. 2002;298:850-854.