Skip to main content
SpringerLink
Log in

Inherited immunodeficiencies

  • Chapter
Molecular and Cell Biology of Human Gene Therapeutics

Part of the book series: Molecular and Cell Biology of Human Diseases Series ((Mol. Cell Biol. Hu. Dis.,volume 20))

Abstract

The inherited immunodeficiency disorders arise as consequences of naturally occurring mutations in the genes which encode various components of the immune system. Increasingly, the genes responsible for these disorders are being identified (Table 9.1). This opens up the possibility for the design of more effective strategies for treating these disorders, including somatic gene therapy.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Allen, R.C., Armitage, R.J., Conley, M.E. et al. (1993a) CD40 ligand gene defects responsible for X-linked hyper IgM syndrome. Science, 259, 990–3.

    Article  CAS  PubMed  Google Scholar 

  • Allen, R.C., Spriggs, M.K. and Belmont, J.W. (1993b) Dinucleotide repeat polymorphism in the human CD40 ligand gene. Hum. Mol. Genet., 2, 828.

    Article  CAS  PubMed  Google Scholar 

  • Arnaiz-Villena, A., Timon, M., Rodriguez-Gallego, C. et al. (1992) Human T-cell activation deficiencies. Immunology Today, 13, 259–65.

    Article  CAS  PubMed  Google Scholar 

  • Arpaia, E., Shahar, M., Dadi, H., Cohen, A. and Roifman, C.M. (1994) Defective T cell receptor signalling and CD8+ thymic selection in humans lacking Zap-70 kinase. Cell, 76, 947–58.

    Article  CAS  PubMed  Google Scholar 

  • Aruffo, A., Farrington, M., Hollenbaugh, D. et al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell, 72, 291–300.

    Article  CAS  PubMed  Google Scholar 

  • Bordignon, C. (1993) Progress toward the clinical application of somatic gene therapy. Curr. Opin. Hematol., 1, 246–51.

    Google Scholar 

  • Bradley, L.D., Sweatman, A.K., Lovering, R.C. et al. (1994) Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum. Mol. Genet., 3, 79–83.

    Article  CAS  PubMed  Google Scholar 

  • Casimir, C.M. and Teahan, C.G. (1994) The respiratory burst of neutrophils and its deficiency, in Immunopharmacology of Neutrophils, (eds P.G. Hellewell and T.J. Williams), Academic Press, London, pp. 27–54.

    Google Scholar 

  • Cournoyer, D. and Caskey, C.T. (1993) Gene therapy of the immune system. Annu. Rev. Immunol., 11, 297–329.

    Article  CAS  PubMed  Google Scholar 

  • DiSanto, J.P., Bonnefoy, J.Y., Gauchat, J.F. et al. (1993) CD40 ligand mutations in X- linked immunodeficiency with hyper IgM. Nature, 361, 541–3.

    Article  CAS  PubMed  Google Scholar 

  • Fischer, A. and Lisowska-Grospierre, B. (1988) Leukocyte adhesion deficiency: molecular basis and functional consequences. Immunodeficiency Rev., 1, 39–54.

    CAS  Google Scholar 

  • Fischer, A., Landais, P., Friedrich, W. et al. (1990) European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet, 336, 850–4.

    Article  CAS  PubMed  Google Scholar 

  • Goodship, J., Levinsky, R.J. and Malcolm, S. (1989) Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male. Hum. Genet., 84, 11–14.

    Article  CAS  PubMed  Google Scholar 

  • Hirschhorn, R. (1990) Adenosine deaminase deficiency. Immunodeficiency Rev., 2, 175–98.

    CAS  Google Scholar 

  • Kinnon, C, Hinshelwood, S., Levinsky, R.J. and Lovering, R.C. (1993) X-linked agammaglobulinemia - gene cloning and future prospects. Immunology Today, 14, 554–8.

    Article  CAS  PubMed  Google Scholar 

  • Kondo, M., Takeshita, T., Ishii, N. et al. (1993) Sharing of the interleukin-2 (IL-2) receptor 7 chain between receptors for IL-2 and IL-4. Science, 262, 1874–7.

    Article  CAS  PubMed  Google Scholar 

  • Korthäuer, U., Graf, D., Mages, H.W. et al. (1993) Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature, 361, 539–41.

    Article  PubMed  Google Scholar 

  • Lebkowski, J.S., McNally, M.M., Okarma, T.B. and Lerch, L.B. (1988) Adeno-associated virus: A vector system for efficient introduction of DNA into a variety of mammalian cell types. Mol. Cell Biol., 8, 3988–96.

    CAS  PubMed Central  PubMed  Google Scholar 

  • Lovering, R.C., Sweatman, A., Genet, S.A. et al.(1994) Identification of deletions in the btk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia. Hum. Genet., 94, 77–9.

    Article  CAS  PubMed  Google Scholar 

  • Markert, M.L. (1991) Purine nucleoside Phosphorylase deficiency. Immunodeficiency Rev., 3, 45–81.

    CAS  Google Scholar 

  • Markiewicz, S., DiSanto, J.P., Chelly, J. et al. (1993) Fine mapping of the human SCIDX1 locus at Xql2-13.1 Hum. Mol. Genet., 2, 651–4.

    Article  CAS  PubMed  Google Scholar 

  • Noguchi, M., Nakamura, Y., Russell, S.M. et al. (1993a) Interleukin-2 receptor γ chain: a functional component of the interleukin-7 receptor. Science, 262, 1877–80.

    Article  CAS  PubMed  Google Scholar 

  • Noguehi, M., Yi, H., Rosenblatt, H.M. et al. (1993b) Interleukin-2 receptor 7 chain mutation results in X-linked severe combined immunodeficiency. Cell, 73, 147–57.

    Article  Google Scholar 

  • Padayachee, M., Feighery, C, Finn, A. et al. (1992) Mapping of the X-linked form of hyper IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics, 14, 551–3.

    Article  CAS  PubMed  Google Scholar 

  • Pelham, A., O'Reilly, M.-A., Malcolm, S. et al. (1990) RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier determination. Blood, 76, 820–4.

    CAS  PubMed  Google Scholar 

  • Philip, R., Brunette, E., Kilinski, L. et al. (1994) Efficient and sustained gene expression in primary T lymphocytes and primary and cultured tumor cells mediated by adeno-associated virus plasmid DNA complexed to cationic liposomes. Mol. Cell Biol., 14, 2411–18.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Porter, C.D., Parkar, M.H., Levinsky, R.J. et al. (1993) X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox. Blood, 82, 2196–202.

    CAS  PubMed  Google Scholar 

  • Porter, CD., Parkar, M., Verhoeven, A.J. et al. (1994) p22-phox-deficient chronic granulomatous disease: identification of a biosynthetic intermediate of gp91-phox and reconstitution by retrovirus-mediated expression. Blood, 84, 2767–75.

    CAS  PubMed  Google Scholar 

  • Puck, J.M., Deschênes, S.M., Porter, J.C et al. (1993) The interleukin-2 receptor 7 chain maps to Xql3.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet., 2, 1099–104.

    Article  CAS  PubMed  Google Scholar 

  • Ramesh, N., Fuleihan, R., Ramesh, V. et al. (1993) Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Int. Immunol., 5,769–73.

    Article  CAS  PubMed  Google Scholar 

  • Royer-Pokera, B., Kunkel, L.M., Monaco, A.P. et al. (1986) Cloning the gene for an inherited human disorder — chronic granulomatous disease — the basis of its chromosomal location. Nature, 322, 32–8.

    Article  Google Scholar 

  • Russell, S.M., Keegan, A.D., Harada, N. et al. (1993) Interleukin-2 receptor 7 chain: a functional component of the interleukin-4 receptor. Science, 262, 1880–3.

    Article  CAS  PubMed  Google Scholar 

  • Seger, R.A. and Ezekowitz, R.A.B. (1994) Treatment of chronic granulomatous disease. Immunodeficiency, 5, 113–30.

    CAS  PubMed  Google Scholar 

  • Sekhsaria, S., Gallin, J.L., Linton, G.F. et al. (1993) Peripheral blood progenitors as a target for genetic correction of p47/phox-deficient chronic granulomatous disease. Broc. Natl Acad. Sei. USA, 90, 7446–50.

    Article  CAS  Google Scholar 

  • Steimle, V., Otten, L.A., Zufferey, M. and Mach, B. (1993) Complementation of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell, 75, 135–46.

    Article  CAS  PubMed  Google Scholar 

  • Thrasher, A., Chetty, M., Casimir, C. and Segal, A.W. (1992) Restoration of superoxide generation to a chronic granulomatous disease-derived B-cell line by retrovirus mediated gene transfer. Blood, 80, 1125–9.

    CAS  PubMed  Google Scholar 

  • Tsukada, S., Saffron, D.C., Rawlings, D.J. et al. (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in a human X-linked agammaglobulinemia. Cell, 72, 279–90.

    Article  CAS  PubMed  Google Scholar 

  • van Beusechem, V.W., Kukler, A., Heidt, P. J. et al. (1992) Long-term expression of human adenosine deaminase in rhesus monkeys transplanted with retrovirus-infected bone marrow cells. Proc. Natl Acad. Sei. USA, 89, 7640–4.

    Article  CAS  Google Scholar 

  • Vetrie, D., Vorechovsky, L, Sideras, P. et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the sre family of protein-tyrosine kinases. Nature, 361, 226–33.

    Article  CAS  PubMed  Google Scholar 

  • Villa, A., Notarangelo, L.D., DiSanto, J.P. et al. (1994) Organization of the human CD40L gene: implications for molecular defects in x chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc. Natl Acad. Sei. USA, 91,2110–14.

    Article  CAS  Google Scholar 

  • Wilson, J.M., Ping, A.J., Kraus, J.C. et al. (1990) Correction of CD 18-deficient lymphocytes by retrovirus-mediated gene transfer. Science, 248, 1413–16.

    Article  CAS  PubMed  Google Scholar 

Download references

Authors
  1. Christine Kinnon
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Biochemistry, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK

    George Dickson

Rights and permissions

Reprints and permissions

Copyright information

© 1995 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Kinnon, C. (1995). Inherited immunodeficiencies. In: Dickson, G. (eds) Molecular and Cell Biology of Human Gene Therapeutics. Molecular and Cell Biology of Human Diseases Series, vol 20. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-0547-7_9

Download citation

  • DOI: https://doi.org/10.1007/978-94-011-0547-7_9

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-4242-0

  • Online ISBN: 978-94-011-0547-7

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation