Low thymic output, peripheral homeostasis deregulation, and hastened regulatory T cells differentiation in children with 22q11.2 deletion syndrome

Journal of Pediatrics

Volumn 164, Issue 4, 2014, Pages 882-889

  Ferrando Martínez, Sara ^a,b   Lorente, Raquel ^a   Gurbindo, Dolores ^c   De José, Ma Isabel ^d   Leal, Manuel ^b   Muñoz Fernández, Ma Angeles ^a,e   Correa Rocha, Rafael ^a  

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^b UNIVERSITY OF SEVILLE   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e BIOMATERIALES Y NANOMEDICINA CIBER BBN   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOIMMUNE DISEASE; CD4+ T LYMPHOCYTE; CHILD; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FEMALE; HUMAN; IMMUNE STATUS; INFECTION; LYMPHOCYTE DIFFERENTIATION; MALE; PHENOTYPE; PRIORITY JOURNAL; REGULATORY T LYMPHOCYTE; T LYMPHOCYTE SUBPOPULATION; THYMUS;

CELL DIFFERENTIATION; CHILD, PRESCHOOL; DIGEORGE SYNDROME; FEMALE; HOMEOSTASIS; HUMANS; INFANT; MALE; T-LYMPHOCYTES, REGULATORY; THYMUS GLAND;

EID: 84896546233     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.12.013     Document Type: Article

References (40)

1. L.J. Kobrynski, and K.E. Sullivan Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes Lancet 370 2007 1443 1452 (Pubitemid 47576169)
2. P. Eberle, C. Berger, S. Junge, S. Dougoud, E.V. Buchel, and M. Riegel et al. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome Clin Exp Immunol 155 2009 189 198
3. E. Perez, and K.E. Sullivan Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes) Curr Opin Pediatr 14 2002 678 683 (Pubitemid 35333127)
4. L.M. Piliero, A.N. Sanford, D.M. McDonald-McGinn, E.H. Zackai, and K.E. Sullivan T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome Blood 103 2004 1020 1025 (Pubitemid 38129565)
5. K.E. Sullivan, A.F. Jawad, P. Randall, D.A. Driscoll, B.S. Emanuel, and D.M. McDonald-McGinn et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes Clin Immunol Immunopathol 86 1998 141 146 (Pubitemid 28081550)
6. A.F. Jawad, E.L. Prak, J. Boyer, D.M. McDonald-McGinn, E. Zackai, and K. McDonald et al. A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome) J Clin Immunol 31 2011 927 935
7. B.E. Tison, S.K. Nicholas, S.L. Abramson, I.C. Hanson, M.E. Paul, and F.O. Seeborg et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome J Allergy Clin Immunol 128 2011 1115 1117.e1-e3
8. K.E. Sullivan, D.M. McDonald-McGinn, D.A. Driscoll, C.M. Zmijewski, A.S. Ellabban, and L. Reed et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome) Arthritis Rheum 40 1997 430 436
9. S. Sakaguchi, T. Yamaguchi, T. Nomura, and M. Ono Regulatory T cells and immune tolerance Cell 133 2008 775 787 (Pubitemid 351707693)
10. G.L. Cvetanovich, and D.A. Hafler Human regulatory T cells in autoimmune diseases Curr Opin Immunol 22 2010 753 760
11. I. Garcia-Merino, N. de Las Cuevas, J.L. Jimenez, A. Garcia, J. Gallego, and C. Gomez et al. Pediatric HIV BioBank: a new role of the Spanish HIV BioBank in pediatric HIV research AIDS Res Hum Retroviruses 26 2010 241 244
12. A. Mittag, D. Lenz, A.O. Gerstner, U. Sack, M. Steinbrecher, and M. Koksch et al. Polychromatic (eight-color) slide-based cytometry for the phenotyping of leukocyte, NK, and NKT subsets Cytometry A 65 2005 103 115 (Pubitemid 40726862)
13. D. Rosa, G. Saletti, E. De Gregorio, F. Zorat, C. Comar, and U. D'Oro et al. Activation of naive B lymphocytes via CD81, a pathogenetic mechanism for hepatitis C virus-associated B lymphocyte disorders Proc Natl Acad Sci U S A 102 2005 18544 18549 (Pubitemid 43011262)
14. S. Ferrando-Martinez, J.M. Franco, E. Ruiz-Mateos, A. Hernandez, A. Ordonez, and E. Gutierrez et al. A reliable and simplified sj/beta-TREC ratio quantification method for human thymic output measurement J Immunol Methods 352 2010 111 117
15. J.M. Franco, A. Rubio, M. Martinez-Moya, M. Leal, E. Merchante, and A. Sanchez-Quijano et al. T-cell repopulation and thymic volume in HIV-1-infected adult patients after highly active antiretroviral therapy Blood 99 2002 3702 3706 (Pubitemid 34534541)
16. M.L. Dion, R.P. Sekaly, and R. Cheynier Estimating thymic function through quantification of T-cell receptor excision circles Methods Mol Biol 380 2007 197 213 (Pubitemid 350183330)
17. C.M. Roifman, J. Zhang, D. Chitayat, and N. Sharfe A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency Blood 96 2000 2803 2807
18. M.V. Soares, N.J. Borthwick, M.K. Maini, G. Janossy, M. Salmon, and A.N. Akbar IL-7-dependent extrathymic expansion of CD45RA+ T cells enables preservation of a naive repertoire J Immunol 161 1998 5909 5917 (Pubitemid 28535958)
19. D. Valmori, A. Merlo, N.E. Souleimanian, C.S. Hesdorffer, and M. Ayyoub A peripheral circulating compartment of natural naive CD4 Tregs J Clin Invest 115 2005 1953 1962 (Pubitemid 40979735)
20. M. Miyara, Y. Yoshioka, A. Kitoh, T. Shima, K. Wing, and A. Niwa et al. Functional delineation and differentiation dynamics of human CD4+ T cells expressing the FoxP3 transcription factor Immunity 30 2009 899 911
21. K. Lima, T.G. Abrahamsen, I. Foelling, S. Natvig, L.P. Ryder, and R.W. Olaussen Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles Clin Exp Immunol 161 2010 98 107
22. R. Correa, and A. Munoz-Fernandez Effects of highly active antiretroviral therapy on thymical reconstitution of CD4 T lymphocytes in vertically HIV-infected children AIDS 16 2002 1181 1183 (Pubitemid 34533858)
23. R. Correa, and M.A. Munoz-Fernandez Production of new T cells by thymus in children: effect of HIV infection and antiretroviral therapy Pediatr Res 52 2002 207 212 (Pubitemid 34827240)
24. P.J. Fink, and D.W. Hendricks Post-thymic maturation: young T cells assert their individuality Nat Rev Immunol 11 2011 544 549
25. A.R. Almeida, J.A. Borghans, and A.A. Freitas T cell homeostasis: thymus regeneration and peripheral T cell restoration in mice with a reduced fraction of competent precursors J Exp Med 194 2001 591 599 (Pubitemid 32844770)
26. S. Kohler, and A. Thiel Life after the thymus: CD31+ and CD31- human naive CD4+ T-cell subsets Blood 113 2009 769 774
27. L.M. Webb, B.M. Foxwell, and M. Feldmann Interleukin-7 activates human naive CD4+ cells and primes for interleukin-4 production Eur J Immunol 27 1997 633 640 (Pubitemid 27110573)
28. L.F. Su, B.A. Kidd, A. Han, J.J. Kotzin, and M.M. Davis Virus-specific CD4(+) memory-phenotype T cells are abundant in unexposed adults Immunity 38 2013 373 383
29. A.W. Goldrath, L.Y. Bogatzki, and M.J. Bevan Naive T cells transiently acquire a memory-like phenotype during homeostasis-driven proliferation J Exp Med 192 2000 557 564 (Pubitemid 30666256)
30. D. Sauce, M. Larsen, S. Fastenackels, A. Duperrier, M. Keller, and B. Grubeck-Loebenstein et al. Evidence of premature immune aging in patients thymectomized during early childhood J Clin Invest 119 2009 3070 3078
31. L. Diaz, G. Mendez-Lagares, R. Correa-Rocha, Y.M. Pacheco, S. Ferrando-Martinez, and E. Ruiz-Mateos et al. Detectable viral load aggravates immunosenescence features of CD8 T-cell subsets in vertically HIV-infected children J Acquir Immune Defic Syndr 60 2012 447 454
32. G. Mendez-Lagares, L. Diaz, R. Correa-Rocha, J.A. Leon Leal, S. Ferrando-Martinez, and E. Ruiz-Mateos et al. Specific patterns of CD4-associated immunosenescence in vertically HIV-infected subjects Clin Microbiol Infect 19 2013 558 565
33. W. Liu, A.L. Putnam, Z. Xu-Yu, G.L. Szot, M.R. Lee, and S. Zhu et al. CD127 expression inversely correlates with FoxP3 and suppressive function of human CD4+ T reg cells J Exp Med 203 2006 1701 1711 (Pubitemid 44036276)
34. R. Mazzucchelli, J.A. Hixon, R. Spolski, X. Chen, W.Q. Li, and V.L. Hall et al. Development of regulatory T cells requires IL-7Ralpha stimulation by IL-7 or TSLP Blood 112 2008 3283 3292
35. A.R. Almeida, B. Zaragoza, and A.A. Freitas Indexation as a novel mechanism of lymphocyte homeostasis: the number of CD4+CD25+ regulatory T cells is indexed to the number of IL-2-producing cells J Immunol 177 2006 192 200 (Pubitemid 43939130)
36. X. Bi, Y. Suzuki, H. Gatanaga, and S. Oka High frequency and proliferation of CD4+ FOXP3+ Treg in HIV-1-infected patients with low CD4 counts Eur J Immunol 39 2009 301 309
37. M. Ayyoub, F. Deknuydt, I. Raimbaud, C. Dousset, L. Leveque, and G. Bioley et al. Human memory FOXP3+ Tregs secrete IL-17 ex vivo and constitutively express the T(H)17 lineage-specific transcription factor RORgamma t Proc Natl Acad Sci U S A 106 2009 8635 8640
38. X.O. Yang, R. Nurieva, G.J. Martinez, H.S. Kang, Y. Chung, and B.P. Pappu et al. Molecular antagonism and plasticity of regulatory and inflammatory T cell programs Immunity 29 2008 44 56
39. M. Pion, D. Jaramillo-Ruiz, A. Martínez, M.A. Muñoz- Fernández, and R. Correa-Rocha HIV infection of human regulatory T cells downregulates foxp3 expression by increasing DNMT3b levels and DNA methylation in the FOXP3 gene AIDS 27 2013 2019 2029
40. S.M. Laakso, T.T. Laurinolli, L.H. Rossi, A. Lehtoviita, H. Sairanen, and J. Perheentupa et al. Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3(+) precursors and impaired activated population J Autoimmun 35 2010 351 357