Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome


Barzaghi F., Passerini L., Gambineri E., Mannurita S. C., Cornu T., Kang E. S., ...Daha Fazla

JOURNAL OF AUTOIMMUNITY, cilt.38, sa.1, ss.49-58, 2012 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 1
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.jaut.2011.12.009
  • Dergi Adı: JOURNAL OF AUTOIMMUNITY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.49-58
  • Anahtar Kelimeler: IPEX syndrome, IPEX-like syndrome, Regulatory T (Treg) cells, Forkhead box p3 (FOXP3), Treg cell-specific-demethylated-region (TSDR), Autoimmune enteropathy, Primary immunodeficiency (PID), DNA METHYLATION ANALYSIS, AUTOIMMUNE ENTEROPATHY, IMMUNE DYSREGULATION, CUTTING EDGE, EXPRESSION, POLYENDOCRINOPATHY, MICE, IMMUNODEFICIENCY, TOLERANCE, MUTATION
  • Ankara Üniversitesi Adresli: Evet

Özet

Immune dysregulation, Polyendocrinopathy, Enteropathy X-linked (IPEX) syndrome is a unique example of primary immunodeficiency characterized by autoimmune manifestations due to defective regulatory T (Treg) cells, in the presence of FOXP3 mutations. However, autoimmune symptoms phenotypically resembling IPEX often occur in the absence of detectable FOXP3 mutations. The cause of this "IPEX-like" syndrome presently remains unclear.