Recombination activating gene and its defects.

Research output: Contribution to journalArticle

Abstract

Mutations in recombination activating genes cause a spectrum of severe immunodeficiencies ranging from T-B severe combined immunodeficiency to Omenn syndrome (a particular type of severe combined immunodeficiency presenting a T+ B- profile). Although environmental factors and genetic background could also contribute to the genesis of this pathological condition, a residual recombination activating gene activity allowing for a few recombinational events to occur, is the first determinant of this variability in the clinical picture.

Original languageEnglish
Pages (from-to)491-495
Number of pages5
JournalCurrent Opinion in Allergy and Clinical Immunology
Volume1
Issue number6
Publication statusPublished - Dec 2001

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Severe Combined Immunodeficiency
Genetic Recombination
Genes
Mutation

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Recombination activating gene and its defects. / Villa, A.; Sobacchi, C.; Vezzoni, P.

In: Current Opinion in Allergy and Clinical Immunology, Vol. 1, No. 6, 12.2001, p. 491-495.

Research output: Contribution to journalArticle

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