Abstract
The most debilitating human lymphoid deficiency disease, known as severe combined immunodeficiency (SCID), impairs the differentiation of both T and B lymphocytes1–7. Affected infants are highly susceptible to recurring infections of viruses, fungi and bacteria and invariably die within 2yr of birth. Inheritance of this congenital syndrome may show X-linked8,9 or autosomal recessive control1,2,9. To date autosomal recessive inheritance of SCID has been observed in Arabian foals10 which represent the only known animal model of this disease syndrome but here we report an autosomal recessive mutation in mice that severely impairs lymphopoiesis. Mice homozygous for this mutation have few if any lymphocytes; consequently they are hypogammaglobulinaemic and deficient for immune functions mediated by T and B lymphocytes. These mice, therefore, represent a new model for investigating how lymphoid differentiation may be impaired in the disease state and regulated in the normal state.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Glanzman, E. & Riniker, P. Ann. Paediat. (Basel) 175, 1–32 (1950).
Tobler, R. & Cottier, H. Helv. paediat. Acta 13, 313–338 (1958).
Hitzig, W. H., Biro, Z., Bosch, H. & Huser, H. J. Helv. paediat. Acta 13, 551–585 (1958).
Breton, A., Walbaum, R., Boniface, L., Goudemand, M. & Dupont, A. Arch. Franc. Pediat. 20, 131–146 (1963).
Nezelof, C., Jammet, M. C., Lortholary, P., Labrune, B. & Lamy, M. Arch. Franc. Pediat. 21, 897–920 (1964).
Giblett, E. R., Anderson, J. E., Cohen, F., Pollara, B. I. & Meuwissen, H. J. Lancet ii, 1067–1069 (1972).
Wld Hlth Org. Rep. Clin. Immun. Immunopath. 2, 415–445 (1974); 13, 296–359 (1979).
Gitlin, D., Janeway, C. A., Apt, L. & Craig, J. M. in Cellular Humoral Aspects of Hypersensitive States (ed. Lawrence, H. S.) 375–441 (Hoeber, New York, 1959).
Hoyer, J. R., Cooper, M. D., Gabrielson, A. E. & Good, R. A. Medicine 47, 201–226 (1968).
McGuire, T. C., Banks, K. L. & Poppie, M. J. Clin. Immun. Immunopath. 3, 555–566 (1975).
Ackeret, C., Plüss, H. J. & Hitzig, W. G. Pediat. Res. 10, 67–70 (1976).
Hirschhorn, R. & Martin, D. W. Springer Semin. Immunopath. 1, 299–321 (1978).
Symington, F. W., Subbarao, B., Mosier, D. E. & Sprent, J. Immunogenetics (in the press).
Coffman, R. L. & Weissman, I. L. J. exp. Med. 153, 269–279 (1981).
Schrader, J. W., Batlye, F. & Scollay, R. Proc. natn. Acad. Sci. U.S.A. 79, 4161–4165 (1982).
Basch, R. S. & Berman, J. W. Eur. J. Immun. 12, 359–364 (1982).
Gatti, R. A. & Good, R. A. Cancer 28, 89–89 (1971).
Kersey, J. H., Spector, B. D. & Good, R. A. Int. J. Cancer 12, 333–347 (1973).
Ledbetter, J. A. & Herzenberg, L. A. Immun. Rev. 47, 63–90 (1979).
Bosma, G. C. et al. J. Immun. 124, 879–884 (190).
Watson, J. & Riblet, R. J. exp. Med. 140, 1147–1161 (1974).
Rubinstein, P. & Kaliss, N. Transplantation 17, 121 (1974).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bosma, G., Custer, R. & Bosma, M. A severe combined immunodeficiency mutation in the mouse. Nature 301, 527–530 (1983). https://doi.org/10.1038/301527a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/301527a0
This article is cited by
-
The evolution of preclinical models for myelodysplastic neoplasms
Leukemia (2024)
-
An overview of mouse models of hepatocellular carcinoma
Infectious Agents and Cancer (2023)
-
DNA-PKcs regulates myogenesis in an Akt-dependent manner independent of induced DNA damage
Cell Death & Differentiation (2023)
-
Alteration in molecular properties during establishment and passaging of endometrial carcinoma patient-derived xenografts
Scientific Reports (2023)
-
DNA methylation analysis explores the molecular basis of plasma cell-free DNA fragmentation
Nature Communications (2023)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.