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

Atıf İçin Kopyala

Tesch V. K., Abolhassani H., Shadur B., Zobel J., Mareika Y., Sharapova S., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.145, sa.5, ss.1452-1463, 2020 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 145 Sayı: 5
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.jaci.2019.12.896
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: 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
Sayfa Sayıları: ss.1452-1463
Anahtar Kelimeler: Inborn error of immunity, primary immunodeficiency disorder, immune dysregulation, clinical score, performance scale, hematopoietic stem cell transplantation, CTLA4, abatacept, sirolimus, combined immunodeficiency, MUTATIONS
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.