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MeSH Review

Severe Combined Immunodeficiency

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Disease relevance of Severe Combined Immunodeficiency


Psychiatry related information on Severe Combined Immunodeficiency


High impact information on Severe Combined Immunodeficiency


Chemical compound and disease context of Severe Combined Immunodeficiency


Biological context of Severe Combined Immunodeficiency


Anatomical context of Severe Combined Immunodeficiency


Gene context of Severe Combined Immunodeficiency

  • These results demonstrate that increased recombination activity after the loss of PARP anti-recombinogenic function can rescue V(D)J recombination in SCID mice and indicate that PARP and DNA-PK cooperate to minimize genomic damage caused by DNA strand breaks [30].
  • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency [15].
  • In addition, CIITA fully corrects the MHC class II regulatory defect of cells from patients with bare lymphocyte syndrome [31].
  • We used a mouse model of Jak3-deficient SCID to test a gene therapy approach for treatment of this disease [32].
  • The chemokine stromal cell-derived factor-1 (SDF-1) and its receptor CXCR4 were found to be critical for murine bone marrow engraftment by human severe combined immunodeficient (SCID) repopulating stem cells [33].

Analytical, diagnostic and therapeutic context of Severe Combined Immunodeficiency

  • The effects of IDN-5109 and paclitaxel on tumor growth in vivo were studied with the use of tumors established through xenografts of Pgp-expressing SW-620 and DLD1 cells in severe combined immunodeficiency mice [34].
  • Analysis of T cell receptor (TCR) V beta usage by reverse transcriptase polymerase chain reaction in the infiltrating MNC transferred into SCID mice revealed a marked skew towards the preferential use of certain V beta genes, which was not seen in the peripheral blood MNC, in only the positive group [35].
  • In patients with severe combined immunodeficiency HLA-matched (n = 41) and T-cell-depleted HLA-mismatched BMT (n = 46) resulted in 68% and 57% disease-free survival, respectively; after HLA-mismatched transplants, older age (greater than 6 months) and adenosine-deaminase deficiency resulted in poorer survival [36].
  • A number of new animal models, including the formation of liver abscesses in SCID mice and intestinal infection in human intestinal xenografts, have proven useful to confirm the critical role of cysteine proteinases in invasion [37].
  • In both SCID and RAG-1-deficient recipients, aortic allografts showed a virtual absence of neointimal formation (%LR, 3.7 +/- 2.1 and 3.8 +/- 1.6 in SCID and RAG-1-deficient recipients, respectively), indicating a critical etiological role for alloimmune responses in this model [38].


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  2. Unexpected effects of the severe combined immunodeficiency mutation on murine lymphomagenesis. Lieberman, M., Hansteen, G.A., Waller, E.K., Weissman, I.L., Sen-Majumdar, A. J. Exp. Med. (1992) [Pubmed]
  3. Altered immune responses in interleukin 10 transgenic mice. Hagenbaugh, A., Sharma, S., Dubinett, S.M., Wei, S.H., Aranda, R., Cheroutre, H., Fowell, D.J., Binder, S., Tsao, B., Locksley, R.M., Moore, K.W., Kronenberg, M. J. Exp. Med. (1997) [Pubmed]
  4. In vivo sequestration of Plasmodium falciparum-infected human erythrocytes: a severe combined immunodeficiency mouse model for cerebral malaria. Willimann, K., Matile, H., Weiss, N.A., Imhof, B.A. J. Exp. Med. (1995) [Pubmed]
  5. Development of autoimmune disease in SCID mice populated with long-term "in vitro" proliferating (NZB x NZW)F1 pre-B cells. Reininger, L., Radaszkiewicz, T., Kosco, M., Melchers, F., Rolink, A.G. J. Exp. Med. (1992) [Pubmed]
  6. Personality disorders and relationship to personality dimensions measured by the Temperament and Character Inventory in patients with obsessive-compulsive disorder. Bejerot, S., Schlette, P., Ekselius, L., Adolfsson, R., von Knorring, L. Acta psychiatrica Scandinavica. (1998) [Pubmed]
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  8. A randomized, controlled trial of panic disorder treatment initiation in an emergency department chest pain center. Wulsin, L., Liu, T., Storrow, A., Evans, S., Dewan, N., Hamilton, C. Annals of emergency medicine. (2002) [Pubmed]
  9. Prevalence of bipolar disorder in the general population: a Reappraisal Study of the Netherlands Mental Health Survey and Incidence Study. Regeer, E.J., ten Have, M., Rosso, M.L., Hakkaart-van Roijen, L., Vollebergh, W., Nolen, W.A. Acta psychiatrica Scandinavica. (2004) [Pubmed]
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  15. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Puel, A., Ziegler, S.F., Buckley, R.H., Leonard, W.J. Nat. Genet. (1998) [Pubmed]
  16. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. Hershfield, M.S., Buckley, R.H., Greenberg, M.L., Melton, A.L., Schiff, R., Hatem, C., Kurtzberg, J., Markert, M.L., Kobayashi, R.H., Kobayashi, A.L. N. Engl. J. Med. (1987) [Pubmed]
  17. Heterodimerization of the IL-2 receptor beta- and gamma-chain cytoplasmic domains is required for signalling. Nakamura, Y., Russell, S.M., Mess, S.A., Friedmann, M., Erdos, M., Francois, C., Jacques, Y., Adelstein, S., Leonard, W.J. Nature (1994) [Pubmed]
  18. Mycobacterial virulence. Virulent strains of Mycobacteria tuberculosis have faster in vivo doubling times and are better equipped to resist growth-inhibiting functions of macrophages in the presence and absence of specific immunity. North, R.J., Izzo, A.A. J. Exp. Med. (1993) [Pubmed]
  19. An expanded population of natural killer cells in mice with severe combined immunodeficiency (SCID) lack rearrangement and expression of T cell receptor genes. Lauzon, R.J., Siminovitch, K.A., Fulop, G.M., Phillips, R.A., Roder, J.C. J. Exp. Med. (1986) [Pubmed]
  20. DNA-PKcs: a T-cell tumour suppressor encoded at the mouse scid locus. Jhappan, C., Morse, H.C., Fleischmann, R.D., Gottesman, M.M., Merlino, G. Nat. Genet. (1997) [Pubmed]
  21. Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. Gajiwala, K.S., Chen, H., Cornille, F., Roques, B.P., Reith, W., Mach, B., Burley, S.K. Nature (2000) [Pubmed]
  22. Signal transducer and activator of transcription (STAT)5 activation by BCR/ABL is dependent on intact Src homology (SH)3 and SH2 domains of BCR/ABL and is required for leukemogenesis. Nieborowska-Skorska, M., Wasik, M.A., Slupianek, A., Salomoni, P., Kitamura, T., Calabretta, B., Skorski, T. J. Exp. Med. (1999) [Pubmed]
  23. Anti-SCID mouse reactivity shapes the human CD4+ T cell repertoire in hu-PBL-SCID chimeras. Tary-Lehmann, M., Lehmann, P.V., Schols, D., Roncarolo, M.G., Saxon, A. J. Exp. Med. (1994) [Pubmed]
  24. Trypanosoma cruzi trans-sialidase: enhancement of virulence in a murine model of Chagas' disease. Chuenkova, M., Pereira, M.E. J. Exp. Med. (1995) [Pubmed]
  25. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Arpaia, E., Shahar, M., Dadi, H., Cohen, A., Roifman, C.M. Cell (1994) [Pubmed]
  26. Reconstitution in severe combined immunodeficiency by transplantation of marrow from an unrelated donor. O'Reilly, R.J., Dupont, B., Pahwa, S., Grimes, E., Smithwick, E.M., Pahwa, R., Schwartz, S., Hansen, J.A., Siegal, F.P., Sorell, M., Svejgaard, A., Jersild, C., Thomsen, M., Platz, P., L'Esperance, P., Good, R.A. N. Engl. J. Med. (1977) [Pubmed]
  27. Severe combined immunodeficiency and adenosine deaminase deficiency. Parkman, R., Gelfand, E.W., Rosen, F.S., Sanderson, A., Hirschhorn, R. N. Engl. J. Med. (1975) [Pubmed]
  28. Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Bonnet, D., Dick, J.E. Nat. Med. (1997) [Pubmed]
  29. Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates. Schmidt, M., Carbonaro, D.A., Speckmann, C., Wissler, M., Bohnsack, J., Elder, M., Aronow, B.J., Nolta, J.A., Kohn, D.B., von Kalle, C. Nat. Med. (2003) [Pubmed]
  30. Genetic interaction between PARP and DNA-PK in V(D)J recombination and tumorigenesis. Morrison, C., Smith, G.C., Stingl, L., Jackson, S.P., Wagner, E.F., Wang, Z.Q. Nat. Genet. (1997) [Pubmed]
  31. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Steimle, V., Otten, L.A., Zufferey, M., Mach, B. Cell (1993) [Pubmed]
  32. Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer. Bunting, K.D., Sangster, M.Y., Ihle, J.N., Sorrentino, B.P. Nat. Med. (1998) [Pubmed]
  33. Dependence of human stem cell engraftment and repopulation of NOD/SCID mice on CXCR4. Peled, A., Petit, I., Kollet, O., Magid, M., Ponomaryov, T., Byk, T., Nagler, A., Ben-Hur, H., Many, A., Shultz, L., Lider, O., Alon, R., Zipori, D., Lapidot, T. Science (1999) [Pubmed]
  34. Effects of orally active taxanes on P-glycoprotein modulation and colon and breast carcinoma drug resistance. Vredenburg, M.R., Ojima, I., Veith, J., Pera, P., Kee, K., Cabral, F., Sharma, A., Kanter, P., Greco, W.R., Bernacki, R.J. J. Natl. Cancer Inst. (2001) [Pubmed]
  35. Transfer of rheumatoid arthritis into severe combined immunodeficient mice. The pathogenetic implications of T cell populations oligoclonally expanding in the rheumatoid joints. Mima, T., Saeki, Y., Ohshima, S., Nishimoto, N., Matsushita, M., Shimizu, M., Kobayashi, Y., Nomura, T., Kishimoto, T. J. Clin. Invest. (1995) [Pubmed]
  36. Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985. Fischer, A., Griscelli, C., Friedrich, W., Kubanek, B., Levinsky, R., Morgan, G., Vossen, J., Wagemaker, G., Landais, P. Lancet (1986) [Pubmed]
  37. Cysteine proteinases and the pathogenesis of amebiasis. Que, X., Reed, S.L. Clin. Microbiol. Rev. (2000) [Pubmed]
  38. Intimal thickening develops without humoral immunity in a mouse aortic allograft model of chronic vascular rejection. Chow, L.H., Huh, S., Jiang, J., Zhong, R., Pickering, J.G. Circulation (1996) [Pubmed]
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