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Başlık: Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Yazarlar: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji.
0000-0001-8571-2581
Kılıç, Sara Şebnem
AAH-1658-2021
34975059200
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
Allergy
Immunology
Yayın Tarihi: May-2020
Yayıncı: Mosby-Elsevier
Atıf: Tesch, V. K. vd. (2020). "Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score". Journal of Allergy and Clinical Immunology, 145(5), 1452-1463.
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. 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.
Açıklama: Bu çalışmada 55 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır.
URI: https://doi.org/10.1016/j.jaci.2019.12.896
https://www.sciencedirect.com/science/article/pii/S009167491932603X
http://hdl.handle.net/11452/29614
ISSN: 0091-6749
Koleksiyonlarda Görünür:PubMed
Scopus
Web of Science

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