JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.145, no.5, pp.1452-1463, 2020 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Inborn error of immunity, primary immunodeficiency disorder, immune dysregulation, clinical score, performance scale, hematopoietic stem cell transplantation, CTLA4, abatacept, sirolimus, combined immunodeficiency, MUTATIONS
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.