Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase

Blood

Volumn 91, Issue 3, 1998, Pages 949-955

  Brugnoni, Duilio ^b   Notarangelo, Luigi D ^a   Sottini, Alessandra ^b   Airò, Paolo ^b   Pennacchio, Marta ^b   Mazzolari, Evelina ^b   Signorini, Simona ^b   Candotti, Fabio ^b   Villa, Anna ^b   Mella, Patrizia ^b   Vezzoni, Paolo ^b   Cattaneo, Roberto ^b   Ugazio, Alberto G ^b   Imberti, Luisa ^b  

^a SPEDALI CIVILI   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN GAMMA CHAIN; PROTEIN TYROSINE KINASE;

ARTICLE; CASE REPORT; CELL PROLIFERATION; CELL SURVIVAL; CLONAL ANERGY; COMBINED IMMUNODEFICIENCY; ENZYME DEFECT; ENZYME SUBUNIT; GENE DELETION; GENE LOCUS; HUMAN; INFANT; KILLER CELL; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; T LYMPHOCYTE ACTIVATION;

EID: 0032006830     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.3.949     Document Type: Article

References (50)

1. Taniguchi T: Cytokine signaling through nonreceptor protein tyrosine kinases. Science 268:251, 1995
2. Ihle JN: Cytokine receptor signalling. Nature 377:591, 1995
3. Johnston JA, Kawamura M, Kirken RA, Chen YQ, Blake TB, Shibuya K, Ortaldo JR, McVicar DW, O'Shea JJ: Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2. Nature 370:151, 1994
4. c chains with Jak1 and Jak3: Implication for XSCID and XCID. Science 266:1042, 1994
5. Miyazaki T, Kawahara A, Fujii H, Nakagawa Y, Minami Y, Liu Z-J, Oishi I, Silvennoinen O, Witthuhn BA, Ihle JN, Taniguchi T: Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science 266:1045, 1994
6. Sugamura K, Asao H, Kondo M, Tanaka N, Ishii N, Nakamura M, Takeshita T: The common γ-chain for multiple cytokine receptors. Adv Immunol 59:225, 1995
7. c in cytokine signaling and lymphoid development. Immunol Rev 48:97, 1995
8. c transduced severe combined immunodeficiency X1 bone marrow cells. Blood 88:3901, 1996
9. Nakajima H, Shores EW, Noguchi M, Leonard WJ: The common cytokine receptor γ chain plays an essential role in regulating lymphoid homeostasis. J Exp Med 185:189, 1997
10. c chain of the IL-2 receptor. Science 266:1039, 1994
11. Akbar AN, Borthwick JN, Wickremasinghe RG, Panayoitidis P, Pilling D, Bofill M, Krajewski S, Reed JC, Salmon M: Interleukin-2 receptor common gamma-chain signaling cytokines regulate activated T cell apoptosis in response to growth factor withdrawal: Selective induction of anti-apoptotic (bcl-2, bcl-xL) but not pro-apoptotic (bax, bcl-xS) gene expression. Eur J Immunol 26:294, 1996
12. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein AH, Modi WS, McBride DW, Leonard WJ: Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147, 1993
13. Cao X, Shores EW, Hu-Li J, Anver MR, Kelsall BL, Russell SM, Drago J, Noguchi M, Gringerg A, Bloom ET, Paul WE, Katz SI, Love PE, Leonard WJ: Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain. Immunity 2:223, 1995
14. DiSanto JP, Müller W, Guy-Grand D, Fischer A, Rajewsky K: Lymphoid development in mice with a targeted deletion of the interleukin-2 receptor γ chain. Proc Natl Acad Sci USA 92:377, 1995
15. Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, Vezzoni P, Notarangelo LD: Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377:65, 1995
16. Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone T-S, Noguchi M, Marken ML, Buckley RH, O'Shea JJ, Leonard WJ: Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development. Science 270:797, 1995
17. Park SY, Saijo K, Takahashi T, Osawa M, Arase H, Hirayama N, Miyake K, Nakauchi H, Shirasawa T, Saito T: Developmental defects of lymphoid cells in Jak3 kinase-deficient mice. Immunity 3:771, 1995
18. Thomis DC, Gurniak CB, Tivol E, Sharpe AH, Berg LJ: Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science 270:794, 1995
19. Nosaka T, van Deursen JMA, Tripp RA, Thierfelder WE, Witthuhn BA, McMickle AP, Doherty PC, Grosveld GC, Ihle JN: Defective lymphoid development in mice lacking Jak3. Science 270: 800, 1995
20. Leonard WJ: The molecular basis of X-linked severe combined immunodeficiency: Defective cytokine receptor signaling. Annu Rev Med 47:229, 1996
21. Thomis DC, Berg LJ: Peripheral expression of Jak3 is required to maintain T lymphocyte function. J Exp Med 185:197, 1997
22. DiSanto J, Rieux-Laucat F, Dautry-Varsat A, Fischer A, De Saint-Basile G: Defective human interleukin 2 receptor γ chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci USA 91:9466, 1994
23. c chain in a severe combined immune deficiency X1 patient. Blood 88:1708, 1996
24. Stephan V, Wahn V, Le Deist F, Dirksen U, Bröker B, Müller-Fleckenstein I, Horneff G, Schroten H, Fischer A, De Saint-Basile G: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 335:1563, 1996
25. Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A: Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood 90:3996, 1997
26. Nicoletti I, Migliorati G, Pagliacci MC, Grignani F, Riccardi C: A rapid and simple method for measuring thymocyte apoptosis by propidium iodide staining and flow cytometry. J Immunol Methods 139:271, 1991
27. Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo LD: Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis. Blood 89:902, 1997
28. Bettinardi A, Imberti L, Sottini A, Primi D: Analysis of amplified T cell receptor Vβ transcripts by a non-isotopic immunoassay. J Immunol Methods 146:71, 1992
29. Sottini A, Quiròs-Roldan E, Albertini A, Primi D, Imberti L: Assessment of T cell receptor variable beta chains diversity by heteroduplex analysis. Hum Immunol 48:12, 1996
30. + T-cell expansions contribute to the imbalanced T-cell receptor repertoire of rheumatoid arthritis patients. Blood 89:2822, 1997
31. Toyonaga B, Yoshikai Y, Vadasz V, Chin B, Mak TW: Organization and sequences of the diversity, joining, and constant region genes of the human T-cell receptor βchain. Proc Natl Acad Sci USA 82:8624, 1985
32. Arden B, Clark SP, Kabelitz D, Mak YW: Human T-cell receptor variable gene segment families. Immunogenetics 42:455, 1995
33. + cells in HIV-infected patients. (submitted)
34. Quiròs-Roldan E, Sottini A, Bettinardi A, Albertini A, Imberti L, Primi D: Different TCRBV genes generate biased patterns of V-D-J diversity in human T cells. Immunogenetics 41:91, 1995
35. Russel JH: Activation-induced death of mature T cells in the regulation of immune responses. Curr Opin Immunol 7:382, 1995
36. Van Parijs L, Abbas AK: Role of Fas-mediated cell death in the regulation of immune responses. Curr Opin Immunol 8:355, 1996
37. Akbar AN, Salmon M: Cellular environments and apoptosis: Tissue microenvironments control activated T-cell death. Immunol Today 18:72, 1997
38. Schmalstieg FC, Wirt DP, Adkins LT, Brooks EG, Stansberry SD, Swischuk LE, Goldman AS: Postnatal development of T lymphocytes in a novel X-linked immunodeficiency disease. Clin Immunol Immunopathol 64:71, 1992
39. + B cells and produces a novel growth factor affecting B and T lineage cells. Exp Hematol 22:321, 1994
40. Rodewald HR, Ogawa M, Haller C, Waskow C, DiSanto JP: Pro-thymocyte expansion by c-kit and the common cytokine receptor γ chain is essential for repertoire formation. Immunity 6:265, 1997
41. -/- mice. Cell 89:1011, 1997
42. Akashi K, Kondo M, von Freeden-Jeffry U, Murray R, Weissman IL: Bcl-2 rescues T lymphopoiesis in interleukin-7 receptor-deficient mice. Cell 89:1033, 1997
43. De Saint-Basile G, Le Deist F, deVillartay JP, Cerf-Bensussan N, Journet O, Brousse N, Griscelli C, Fischer A: Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (in Omenn's Syndrome). J Clin Invest 87:1352, 1991
44. Wirt DP, Brooks EG, Vaidya AS, Klimpel GR, Waldmann TA, Goldblum RL: Novel T-lymphocyte population in combined immunodeficiency with features of graft versus host disease. N Engl J Med 32:370, 1989
45. Brugnoni D, Airò P, Facchetti F, Blanzuoli L, Ugazio AG, Cattaneo R, Notarangelo LD: In vitro cell death of activated lymphocytes in Omenn's syndrome. Eur J Immunol 1997 (in press)
46. + lymphocyte subsets after allogeneic BMT. Bone Marrow Transplant 11:346, 1993 (letter)
47. Storek J, Witherspoon RP, Storb R: T cell reconstitution after bone marrow transplantation into adult patients does not resemble T cell development in early life. Bone Marrow Transplant 16:413, 1995
48. Donnenberg AD, Margolick JB, Beltz LA, Donnenberg VS, Rinaldo CR Jr: Apoptosis parallels lymphopoiesis in bone marrow transplantation and HIV disease. Res Immunol 146:11, 1995
49. Sottini A, Quiròs-Roldan E, Notarangelo LD, Malagoli A, Primi D, Imberti L: Engrafted maternal T cells in a severe combined immunodeficiency patient express T-cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity. Blood 85:2105, 1995
50. Saijo K, Park SY, Ishida Y, Arase H, Saito T: Crucial role of Jak3 in negative selection of self-reactive T cells. J Exp Med 185:351, 1997