Autoimmunity and apoptosis: The Crohn's connection

Research output: Contribution to journalArticle

100 Citations (Scopus)

Abstract

Complex genetic disorders have begun to yield to sequential positional cloning initiatives. Both in humans and in mice, given that multiple susceptibility loci can be established, it is generally possible to dissect phenotypes one gene at a time. The first step has been taken in Crohn's disease. But even simple genetic disorders pose problems of interpretation once they are solved by positional methods. How does huntingtin create its phenotype? How do mutations of superoxide dismutase create amyotrophic lateral sclerosis? How do mutations of NRAMP enhance susceptibility to mycobacterial infection? When numerous mutations are responsible for a phenotype, the riddle is more challenging still. NOD2 has become the eighth protein known to have strong ties to cell death pathways and to autoimmunity. Mutations of NOD2 are responsible for a discrete autoimmune disease. But as to how they create the phenotype, much remains to be learned.

Original languageEnglish (US)
Pages (from-to)5-14
Number of pages10
JournalImmunity
Volume15
Issue number1
DOIs
StatePublished - 2001

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Autoimmunity
Apoptosis
Phenotype
Mutation
Inborn Genetic Diseases
Amyotrophic Lateral Sclerosis
Crohn Disease
Autoimmune Diseases
Superoxide Dismutase
Organism Cloning
Cell Death
Infection
Genes
Proteins

ASJC Scopus subject areas

  • Immunology and Allergy
  • Infectious Diseases
  • Immunology

Cite this

Autoimmunity and apoptosis : The Crohn's connection. / Beutler, Bruce.

In: Immunity, Vol. 15, No. 1, 2001, p. 5-14.

Research output: Contribution to journalArticle

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