TY  -  
T1  - Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score 
SN  -  /  
UR  - http://hdl.handle.net/10138/315923 
T3  -  
A1  - Tesch, Victoria Katharina; Abolhassani, Hassan; Shadur, Bella; Zobel, Joachim; Mareika, Yuliya; Sharapova, Svetlana; Karakoc-Aydiner, Elif; Rivière, Jacques G.; Garcia-Prat, Marina; Moes, Nicolette; Haerynck, Filomeen; Gonzales-Granado, Luis I.; Santos Pérez, Juan Luis; Mukhina, Anna; Shcherbina, Anna; Aghamohammadi, Asghar; Hammarström, Lennart; Dogu, Figen; Haskologlu, Sule; İkincioğulları, Aydan İ.; Köstel Bal, Sevgi; Baris, Safa; Kilic, Sara Sebnem; Karaca, Neslihan Edeer; Kutukculer, Necil; Girschick, Hermann; Kolios, Antonios; Keles, Sevgi; Uygun, Vedat; Stepensky, Polina; Worth, Austen; van Montfrans, Joris M.; Peters, Anke M.J.; Meyts, Isabelle; Adeli, Mehdi; Marzollo, Antonio; Padem, Nurcicek; Khojah, Amer M.; Chavoshzadeh, Zahra; Avbelj Stefanija, Magdalena; Bakhtiar, Shahrzad; Florkin, Benoit; Meeths, Marie; Gamez, Laura; Grimbacher, Bodo; Seppänen, Mikko R.J.; Lankester, Arjan; Gennery, Andrew R.; Seidel, Markus G. 
A2  -  
PB  -  
Y1  - 2020 
LA  - eng 
AB  - 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. Objective This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do ... 
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OP  -  
KW  - Inborn error of immunity; primary immunodeficiency disorder; immune dysregulation; clinical score; performance scale; hematopoietic stem cell transplantation; CTLA4; abatacept; sirolimus; combined immunodeficiency; 3121 General medicine, internal medicine and other clinical medicine 
N1  -   
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ER  -