Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
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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 I, 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, Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies
Аннотация
OBJECTIVE: 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.
METHOD: 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.
RESULTS: 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.
CONCLUSION: The lifelong disease activity, implying a need for immunosuppression and risk of malignancy, must be weighed against the risks of HSCT.