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 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 145 Issue: 5
Publication Date: 2020
Doi Number: 10.1016/j.jaci.2019.12.896
Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal Indexes: 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
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
Bursa Uludag University Affiliated: Yes

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.