Molecular genetic analysis of the primary immunodeficiency disorders

Pediatr Clin North Am. 1994 Aug;41(4):657-64. doi: 10.1016/s0031-3955(16)38802-2.

Abstract

Exciting progress in the search for the genetic basis of the primary immune deficiency disorders continues to shed insight into functioning of the immune system in health and disease. The molecular genetic causes of 7 of the 17 WHO-recognized primary immune deficiency diseases have been defined. Additional studies will shed more insight into congenital and acquired immune deficiency disorders.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping
  • Genetic Carrier Screening / methods
  • Humans
  • Immunologic Deficiency Syndromes / classification
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Molecular Biology / methods
  • Polymorphism, Restriction Fragment Length
  • Prenatal Diagnosis / methods