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, Victoria; Abolhassani, Hassan; Shadur, Bella; Zobel, Joachim; Mareika, Yuliya; Sharapova, Svetlana; Karakoc-Aydiner, Elif; Riviere, Jacques; Garcia-Prat, Marina; Moes, Nicolette; Haerynck, Filomeen; Gonzales-Granado, Luis; Santos Perez, Juan; Mukhina, Anna; Shcherbina, Anna; Aghamohammadi, Asghar; Hammarstrom, Lennart; Dogu, Figen; Haskologlu, Sule; Ikinciogullari, Aydan; Bal, Sevgi; BARIŞ, SAFA; Kilic, SARA; Karaca, Neslihan; KÜTÜKÇÜLER, NECİL; Girschick, Hermann; Kolios, Antonios; KELEŞ, SEVGİ; Uygun, Vedat; Stepensky, Polina; Worth, Austen; van Montfrans, Joris; Peters, Anke; Meyts, Isabelle; Adeli, Mehdi; Marzollo, Antonio; Padem, Nurcicek; Khojah, Amer; Chavoshzadeh, Zahra; Stefanija, Magdalena; Bakhtiar, Shahrzad; Florkin, Benoit; Meeths, Marie; Gamez, Laura; Grimbacher, Bodo; Seppanen, Mikko; Lankester, Arjan; Gennery, Andrew; Seidel, Markus

doi:10.1016/j.jaci.2019.12.896

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)

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.