Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Clinical and Experimental Immunology

Volumn 132, Issue 2, 2003, Pages 323-331

  Pierdominici, M ^a   Mazzetta, F ^b   Caprini, E ^c   Marziali, M ^b   Digilio, M C ^d   Marino, B ^b   Aiuti, A ^e   Amati, F ^f   Russo, G ^c   Novelli, G ^f   Pandolfi, F ^g   Luzi, G ^b   Giovannetti, Antonello ^a,b  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

^g CATHOLIC UNIVERSITY   (Italy)

Author keywords

22q11.2 deletion; CDR3 spectratyping; DGS VCFS; T cell receptor repertoire; Thymic output

Indexed keywords

CD4 ANTIGEN; CD8 ANTIGEN; DNA FRAGMENT; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; T LYMPHOCYTE RECEPTOR;

ADOLESCENT; AGE DETERMINATION; ARTICLE; BLOOD CELL; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE STUDY; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DIGEORGE SYNDROME; EVALUATION; FEMALE; FLOW CYTOMETRY; GENE SEQUENCE; HUMAN; HUMAN CELL; HYPOPARATHYROIDISM; MALE; MEASUREMENT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; T LYMPHOCYTE; THYMUS; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; CASE-CONTROL STUDIES; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE REARRANGEMENT, BETA-CHAIN T-CELL ANTIGEN RECEPTOR; HUMANS; IMMUNOGLOBULIN VARIABLE REGION; IMMUNOPHENOTYPING; IN SITU HYBRIDIZATION, FLUORESCENCE; LYMPHOCYTE ACTIVATION; MALE; RECEPTOR-CD3 COMPLEX, ANTIGEN, T-CELL; RECEPTORS, ANTIGEN, T-CELL; T-LYMPHOCYTE SUBSETS; THYMUS GLAND;

EID: 0038216872     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2003.02134.x     Document Type: Article

References (42)

1. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998; 35:789-90.
2. Edelmann L, Pandita RK, Spiteri E et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8:1157-67.
3. 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.
4. Yamagishi H, Ishii C, Maeda J et al. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 1998; 78:319-21.
5. Novelli G, Amati F, Dallapiccola B. Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. Mol Med Today 2000; 6:10-1.
6. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr 1979; 94:883-90.
7. Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 1993; 123:406-10.
8. Driscoll D, Sullivan KE. DiGeorge syndrome: a chromosome 22q11.2 deletion syndrome. In: Ochs, H, Smith, E, Puck, J, eds. Primary immunodeficiency diseases - a molecular and genetic approach. Oxford: Oxford University Press, 1999:198-208.
9. Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Laboratory Immunol 1981; 6:1-6.
10. Muller W, Peter HH, Kallfelz HC, Franz A, Rieger CH. The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder. Eur J Pediatr 1989; 149:96-103.
11. Bastian J, Law S, Vogler L, Lawton A, Herrod H, Anderson S, Horowitz S, Hong R. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr 1989; 115:391-6.
12. Sirianni MC, Businco L, Seminara R, Aiuti F. Severe combined immunodeficiencies, primary T-cell defects and DiGeorge syndrome in humans: characterization by monodonal antibodies and natural killer cell activity. Clin Immunol Immunopathol 1983; 28:361-70.
13. Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, Mcdonald-Mcginn DM, Zackai EH. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 1998; 86:141-6.
14. August CS, Rosen FS, Filler RM, Janeway CA, Markowski B, Kay HE. Implantation of a foetal thymus, restoring immunological competence in a patient with thymic aplasia (Digeorge's syndrome). Lancet 1968; 2:1210-1.
15. Markert ML, Boeck A, Hale LP et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 1999; 341:1180-9.
16. Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr 1987; 111:40-4.
17. Collard HR, Boeck A, McLaughlin TM, Watson TJ, Schiff SE, Hale LP, Markert ML. Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome. Clin Immunol 1999; 91:156-62.
18. Pizzuti A, Novelli G, Mari A et al. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet 1996; 58:722-9.
19. Pizzuti A, Novelli G, Ratti A et al. Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. Mol Genet Metab 1999; 67:227-35.
20. Giovannetti A, Pierdominici M, Mazzetta F et al. T cell responses to highly active antiretroviral therapy defined by chemokine receptors expression, cytokine production, T cell receptor repertoire and anti-HIV T-lymphocyte activity. Clin Exp Immunol 2001; 124:21-31.
21. Cottrez F, Auriault C, Capron A, Groux H. Analysis of the V beta specificity of superantigen activation with a rapid and sensitive method using RT PCR and an automatic DNA analyser. J Immunol Meth 1994; 172:85-94.
22. Gorochov G, Neumann AU, Kereveur A et al. Perturbation of CD4+ and CD8+ T-cell repertoires during progression to AIDS and regulation of the CD4+ repertoire during antiviral therapy. Nat Med 1998; 4:215-21.
23. Thompson JD, Higgins DG, Gibson TJ, Clustal W. Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucl Acids Res 1994; 22:4673-80.
24. Lefranc MP. IMGT, the international ImMunoGeneTics database. Nucl Acids Res 2001; 29:207-9.
25. Zhang L, Lewin SR, Markowitz M et al. Measuring recent thymic emigrants in blood of normal and HIV-1-infected individuals before and after effective therapy. J Exp Med 1999; 190:725-32.
26. Giovannetti A, Mazzetta F, Caprini E et al. Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia-telangiectasia. Blood 2002; 100:4082-9.
27. Minegishi Y, Akagi K, Nishikawa K, Okawa H, Yata J. Analysis of the CDR3 region of the rearranged IgH chain genes in patients with severe combined immunodeficiency and severe lymphopenia. J Immunol 1996; 156:4666-71.
28. Serrano D, Becker K, Cunningham-Rundles C, Mayer L. Characterization of the T cell receptor repertoire in patients with common variable immunodeficiency. oligoclonal expansion of CD8 (+) T cells. Clin Immunol 2000; 97:248-58.
29. Brooks EG, Filipovich AH, Padgett JW, Mamlock R, Goldblum RM. T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly. Blood 1999; 93:242-50.
30. 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; 121:127-32.
31. Markert ML, Hummell DS, Rosenblatt HM, Schiff SE, Harville TO, Williams LW, Schiff RI, Buckley RH. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 1998; 132:15-21.
32. Hingorani R, Choi IH, Akolkar P, Gulwani-Akolkar B, Pergolizzi R, Silver J, Gregersen PK. Clonal predominance oft cell receptors within the CD8+ CD45RO+ subset in normal human subjects. J Immunol 1993; 151:5762-9.
33. Argaet VP, Schmidt CW, Burrows SR et al. Dominant selection of an invariant T cell antigen receptor in response to persistent infection by Epstein-Barr virus. J Exp Med 1994; 180:2335-40.
34. Khan N, Shariff N, Cobbold M, Bruton R, Amsworth JA, Sinclair AJ, Nayak L, Moss PA. Cytomegalovirus seropositivity drives the CD8 T cell repertoire toward greater clonality in healthy elderly individuals. J Immunol 2002; 169:1984-92.
35. Macdonald HR, Lees RK, Bron C, Sordat B, Miescher G. T cell antigen receptor expression in athymic (nu/nu) mice. Evidence for an oligoclonal beta chain repertoire. J Exp Med 1987; 166:195-209.
36. Maleckar JR, Sherman LA. The composition of the T cell receptor repertoire in nude mice. J Immunol 1987; 138:3873-6.
37. Davis CM, Mclaughlin TM, Watson TJ, Buckley RH, Schiff SE, Hale LP, Haynes BF, Markert ML. Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome. J Clin Immunol 1997; 17:167-75.
38. Hazenberg MD, Otto SA, Cohen Stuart JW et al. Increased cell division but not thymic dysfunction rapidly affects the T-cell receptor excision circle content of the naive T cell population in HIV-1 infection. Nat Med 2000; 6:1036-42.
39. Mitra DK, De Rosa SC, Luke A et al. Differential representations of memory T cell subsets are characteristic of polarized immunity in leprosy and atopic diseases. Int Immunol 1999; 11:1801-10.
40. Kuo CT, Leiden JM. Transcriptional regulation oft lymphocyte development and function. Annu Rev Immunol 1999; 17:149-87.
41. Tan JT, Dudl E, Leroy E, Murray R, Sprent J, Weinberg KI, Surh CD. IL-7 is critical for homeostatic proliferation and survival of naive T cells. Proc Natl Acad Sci USA 2001; 98:8732-7.
42. Wei S, Charmley P, Robinson MA, Concannon P. The extent of the human germline T-cell receptor V beta gene segment repertoire. Immunogenetics 1994; 40:27-36.