Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Tesch V., Abolhassani H., Shadur B., Zobel J., Mareika Y., Sharapova S., ...Daha Fazla

The Journal of allergy and clinical immunology, cilt.145, ss.1452-1463, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 145
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.jaci.2019.12.896
  • Dergi Adı: The Journal of allergy and clinical immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, International Pharmaceutical Abstracts, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.1452-1463
  • Anahtar Kelimeler: Inborn error of immunity, primary immunodeficiency disorder, immune dysregulation, clinical score, performance scale, hematopoietic stem cell transplantation, CTLA4, abatacept, sirolimus, combined immunodeficiency, MUTATIONS
  • Marmara Üniversitesi Adresli: Evet

Özet

Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do not receive a transplant.