RT Journal Article
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.
A1 Tesch, Victoria Katharina
A1 Abolhassani, Hassan
A1 Shadur, Bella
A1 Zobel, Joachim
A1 Mareika, Yuliya
A1 Sharapova, Svetlana
A1 Karakoc-Aydiner, Elif
A1 Rivière, Jacques G
A1 Garcia-Prat, Marina
A1 Moes, Nicolette
A1 Haerynck, Filomeen
A1 Gonzales-Granado, Luis I
A1 Santos Pérez, Juan Luis
A1 Mukhina, Anna
A1 Shcherbina, Anna
A1 Aghamohammadi, Asghar
A1 Hammarström, Lennart
A1 Dogu, Figen
A1 Haskologlu, Sule
A1 İkincioğulları, Aydan I
A1 Köstel Bal, Sevgi
A1 Baris, Safa
A1 Kilic, Sara Sebnem
A1 Karaca, Neslihan Edeer
A1 Kutukculer, Necil
A1 Girschick, Hermann
A1 Kolios, Antonios
A1 Keles, Sevgi
A1 Uygun, Vedat
A1 Stepensky, Polina
A1 Worth, Austen
A1 van Montfrans, Joris M
A1 Peters, Anke M J
A1 Meyts, Isabelle
A1 Adeli, Mehdi
A1 Marzollo, Antonio
A1 Padem, Nurcicek
A1 Khojah, Amer M
A1 Chavoshzadeh, Zahra
A1 Avbelj Stefanija, Magdalena
A1 Bakhtiar, Shahrzad
A1 Florkin, Benoit
A1 Meeths, Marie
A1 Gamez, Laura
A1 Grimbacher, Bodo
A1 Seppänen, Mikko R J
A1 Lankester, Arjan
A1 Gennery, Andrew R
A1 Seidel, Markus G
A1 Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies
K1 CTLA4
K1 Inborn error of immunity
K1 abatacept
K1 clinical score
K1 combined immunodeficiency
K1 hematopoietic stem cell transplantation
K1 immune dysregulation
K1 performance scale
K1 primary immunodeficiency disorder
K1 sirolimus
AB 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. This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do not receive a transplant. We assessed disease burden and treatment responses with a specially developed immune deficiency and dysregulation activity score, reflecting the sum and severity of organ involvement and infections, days of hospitalization, supportive care requirements, and performance indices. Of 76 patients with LRBA deficiency from 29 centers (median follow-up, 10 years; range, 1-52), 24 underwent HSCT from 2005 to 2019. The overall survival rate after HSCT (median follow-up, 20 months) was 70.8% (17 of 24 patients); all deaths were due to nonspecific, early, transplant-related mortality. Currently, 82.7% of patients who did not receive a transplant (43 of 52; age range, 3-69 years) are alive. Of 17 HSCT survivors, 7 are in complete remission and 5 are in good partial remission without treatment (together, 12 of 17 [70.6%]). In contrast, only 5 of 43 patients who did not receive a transplant (11.6%) are without immunosuppression. Immune deficiency and dysregulation activity scores were significantly lower in patients who survived HSCT than in those receiving conventional treatment (P = .005) or in patients who received abatacept or sirolimus as compared with other therapies, and in patients with residual LRBA expression. Higher disease burden, longer duration before HSCT, and lung involvement were associated with poor outcome. The lifelong disease activity, implying a need for immunosuppression and risk of malignancy, must be weighed against the risks of HSCT.
YR 2019
FD 2019-12-27
LK http://hdl.handle.net/10668/14904
UL http://hdl.handle.net/10668/14904
LA en
DS RISalud
RD Apr 7, 2025