Naturally occurring primary deficiencies of the immune system

Annu Rev Immunol. 1997;15:93-124. doi: 10.1146/annurev.immunol.15.1.93.


Naturally occurring genetic disorders of the immune system provide many models for the study of its development and function. In a way, their analysis complements the information provided by the generation of genetic defects in mice created using homologous recombination techniques. In this review, the recent findings made in three areas are focused upon deficiencies in T cell differentiation and in T lymphocyte activation, and on the control process of peripheral immune response.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Female
  • Genetic Linkage
  • Humans
  • Immunologic Deficiency Syndromes / etiology
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Killer Cells, Natural / immunology
  • Lymphocyte Activation / genetics
  • Male
  • Mice
  • Severe Combined Immunodeficiency / genetics
  • T-Lymphocytes / immunology
  • X Chromosome / genetics
  • fas Receptor / genetics


  • fas Receptor