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. K. , Abolhassani H., Shadur B., Zobel J., Mareika Y., Sharapova S., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.145, no.5, pp.1452-1463, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 145 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1016/j.jaci.2019.12.896
  • Title of Journal : 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.