Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor β1-deficient patients

Molecular Therapy

Volumn 9, Issue 6, 2004, Pages 895-901

  Bosticardo, Marita ^a   Witte, Iren ^a   Fieschi, Claire ^b   Novelli, Francesco ^c   Casanova, Jean Laurent ^b   Candotti, Fabio ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c MOLINETTE HOSPITAL   (Italy)

Author keywords

Cytokine receptors; Cytokines; Gene therapy; Immunodeficiency diseases; T lymphocytes

Indexed keywords

ANTIBIOTIC AGENT; COMPLEMENTARY DNA; CYTOKINE RECEPTOR; GAMMA INTERFERON; INTERLEUKIN 12; INTERLEUKIN 12 RECEPTOR; INTERLEUKIN 23; RETROVIRUS VECTOR; STAT4 PROTEIN;

ARTICLE; BACTERIAL VIRULENCE; BETA CHAIN; CONTROLLED STUDY; CYTOKINE PRODUCTION; DEATH; FEASIBILITY STUDY; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; GENE TRANSFER; GENETIC DISORDER; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; INFECTION SENSITIVITY; MYCOBACTERIUM; PHENOTYPE; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; REVERTANT; SALMONELLA; SIGNAL TRANSDUCTION; T LYMPHOCYTE; TREATMENT OUTCOME;

BACTERIAL INFECTIONS; CELL LINE; DNA-BINDING PROTEINS; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; HUMANS; INTERFERON TYPE II; INTERLEUKIN-12; INTERLEUKIN-23; INTERLEUKIN-23 SUBUNIT P19; INTERLEUKINS; PHOSPHORYLATION; RECEPTORS, INTERLEUKIN; RECEPTORS, INTERLEUKIN-12; RETROVIRIDAE; SIGNAL TRANSDUCTION; STAT4 TRANSCRIPTION FACTOR; T-LYMPHOCYTES; TRANS-ACTIVATORS;

CORYNEBACTERINEAE; SALMONELLA;

EID: 3042734228     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2004.02.024     Document Type: Article

References (30)

1. Dorman S.E. Holland S.M. Interferon-gamma and interleukin-12 pathway defects and human disease Cytokine Growth Factor Rev. 11 2000 321-333
2. Casanova J.L. Abel L. Genetic dissection of immunity to mycobacteria: the human model Annu. Rev. Immunol. 20 2002 581-620
3. Gately M.K. et al. The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses Annu. Rev. Immunol. 16 1998 495-521
4. Trinchieri G. Interleukin-12 and the regulation of innate resistance and adaptive immunity Nat. Rev. Immunol. 3 2003 133-146
5. Oppmann B. et al. Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12 Immunity 13 2000 715-725
6. Parham C. et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R J. Immunol. 168 2002 5699-5708
7. Lankford C.S.R. Frucht D.M. A unique role for IL-23 in promoting cellular immunity J. Leukocyte Biol. 73 2003 49-56
8. Altare F. et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency Science 280 1998 1432-1435
9. de Jong R. et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients Science 280 1998 1435-1438
10. Sakai T. Matsuoka M. Aoki M. Nosaka K. Mitsuya H. Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection Blood 97 2001 2688-2694
11. Aksu G. et al. Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency Pediatr. Infect. Dis. J. 20 2001 551-553
12. Altare F. et al. Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis J. Infect. Dis. 184 2001 231-236
13. Elloumi-Zghal H. et al. Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis Bacille Calmette-Guerin infection J. Infect. Dis. 185 2002 1468-1475
14. Lichtenauer-Kaligis E.G. et al. Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency Eur. J. Immunol. 33 2003 59-69
15. Cleary A.M. et al. Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency J. Immunol. 170 2003 597-603
16. Fieschi C. et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications J. Exp. Med. 197 2003 527-535
17. Staretz-Haham O. et al. Interleukin-12 receptor β1 deficiency presenting as recurrent Salmonella infection Clin. Infect. Dis. 37 2003 137-140
18. Caragol I. et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor β1 deficiency Clin. Infect. Dis. 37 2003 302-306
19. Fieschi C. Casanova J.L. The role of interleukin-12 in human infectious diseases: only a faint signature Eur. J. Immunol. 33 2003 1461-1464
20. Otsu M. Anderson S.M. Bodine D.M. Puck J.M. O'Shea J.J. Candotti F. Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy Mol. Ther. 1 2000 145-153
21. O'Shea J.J. Gadina M. Schreiber R. Cytokine signaling in 2002: new surprises in the Jak/Stat pathway Cell 109 2002 S121-S131
22. Dondi E. et al. Down-modulation of type 1 interferon responses by receptor cross-competition for a shared Jak kinase J. Biol. Chem. 276 2001 47004-47012
23. Shimoda K. et al. Tyk2 plays a restricted role in IFN alpha signaling, although it is required for IL-12-mediated T cell function Immunity 13 2000 561-571
24. Wu C. Ferrante J. Gately M.K. Magram J. Characterization of IL-12 receptor β1 chain (IL-12Rβ1)-deficient mice. IL-12Rβ1 is an essential component of the functional mouse IL-12 receptor J. Immunol. 159 1997 1658-1665
25. Meinl E. Hohlfeld R. Wekerle H. Fleckenstein B. Immortalization of human T cells by Herpesvirus saimiri Immunol. Today 16 1995 55-58
26. Halene S. Wang L. Cooper R.M. Bockstoce D.C. Robbins P.B. Kohn D.B. Improved expression in hematopoietic and lymphoid cells in mice after transplantation of bone marrow transduced with a modified retroviral vector Blood 94 1999 3349-3357
27. Miller A.D. Garcia J.V. von Suhr N. Lynch C.M. Wilson C. Eiden M.V. Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus J. Virol. 65 1991 2220-2224
28. Candotti F. Johnston J.A. Puck J.M. Sugamura K. O'Shea J.J. Blaese R.M. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency Blood 87 1996 3097-3102
29. Otsu M. et al. Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells Blood 100 2002 1248-1256
30. Uzel G. Frucht D.M. Fleisher T.A. Holland S.M. Detection of intracellular phosphorylated STAT-4 by flow cytometry Clin. Immunol. 100 2001 270-276