The X chromosome and systemic sclerosis

Carlo Selmi, Pietro Invernizzi, M. Eric Gershwin

Research output: Contribution to journalArticlepeer-review


PURPOSE OF REVIEW: Similar to the majority of autoimmune rheumatic diseases, systemic sclerosis is characterized by a striking female predominance superimposed on a predisposing genetic background. At least two genetic mechanisms have been proposed that play a role in susceptibility to systemic sclerosis; firstly the maintenance of immune tolerance via genes on the X chromosomes and, secondly, fetal microchimerism. Based on these lines of evidence, experimental efforts have been most recently dedicated to investigating the role of X chromosome abnormalities (i.e. monosomy rates and inactivation patterns) in autoimmunity. We will review herein the most recent data on the role of the X chromosome in systemic sclerosis onset and discuss the potential implications. RECENT FINDINGS: Women with systemic sclerosis manifest an enhanced rate of X monosomic cells in peripheral blood compared with healthy age-matched women. Furthermore, a severely skewed X chromosome inactivation pattern is found in women with systemic sclerosis. SUMMARY: These observations, reproduced in other female-predominant autoimmune diseases, strongly support the role of the X chromosome in conferring susceptibility to tolerance breakdown and open novel scenarios to emphasize the unknown etiopathogenesis of systemic sclerosis. The implications of these findings will be discussed.

Original languageEnglish
Pages (from-to)601-605
Number of pages5
JournalCurrent Opinion in Rheumatology
Issue number6
Publication statusPublished - Nov 2006


  • Autoimmunity
  • Haploinsufficiency
  • X chromosome inactivation
  • X monosomy

ASJC Scopus subject areas

  • Rheumatology
  • Immunology


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