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., ...More

The Journal of allergy and clinical immunology, vol.145, pp.1452-1463, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 145
  • Publication Date: 2020
  • Doi Number: 10.1016/j.jaci.2019.12.896
  • Title of Journal : The Journal of allergy and clinical immunology
  • Page Numbers: pp.1452-1463
  • Keywords: Inborn error of immunity, primary immunodeficiency disorder, immune dysregulation, clinical score, performance scale, hematopoietic stem cell transplantation, CTLA4, abatacept, sirolimus, combined immunodeficiency, MUTATIONS

Abstract

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.