Genetically determined lymphopenia and autoimmune manifestations

Anna Villa, Veronica Marrella, Francesca Rucci, Luigi D. Notarangelo

Research output: Contribution to journalArticlepeer-review


Hypomorphic defects of V(D)J recombination in humans lead to residual T cell development. In these lymphopenic conditions, homeostatic lymphocyte proliferation occurs, and key mechanisms that normally maintain host tolerance are altered, allowing peripheral expansion of oligoclonal and autoreactive T cells. Recently described murine models support this notion. This review describes human and murine situations, in which genetically determined T and B cell lymphopenia is associated with autoimmune manifestations.

Original languageEnglish
Pages (from-to)318-324
Number of pages7
JournalCurrent Opinion in Immunology
Issue number3
Publication statusPublished - Jun 2008

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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