Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Barzaghi F., Hernandez L. C. A., Neven B., Ricci S., Kucuk Z. Y., Bleesing J. J., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.141, sa.3, ss.1036-1054, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 141 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.jaci.2017.10.041
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1036-1054
  • Anahtar Kelimeler: IPEX, primary immune deficiency, FOXP3, Treg cells, hematopoietic stem cell transplantation, immunosuppression, rapamycin, enteropathy, neonatal diabetes, genetic autoimmunity, X-LINKED SYNDROME, STEM-CELL TRANSPLANTATION, REGULATORY T-CELLS, IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, IMMUNODYSREGULATION, ENGRAFTMENT, MUTATIONS, SIROLIMUS
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.