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Başlık: Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
Yazarlar: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
0000-0001-8571-2581
Kılıç, Sara Şebnem
AAH-1658-2021
34975059200
Anahtar kelimeler: Hematopoietic stem cell transplantation
Chronic mucocutaneous candidiasis
Signal transducer and activator of transcription
Janus kinase
Gain of function
Graft-versus-host disease
Graft rejection
Hemophagocytic lymphohistiocytosis
Chronic mucocutaneous candidiasis
Bone-marrow-transplantation
Function stat1 mutations
Hemophagocytic lymphohistiocytosis
Combined immunodeficiency
Clinical phenotype
Deficiency
Ruxolitinib
Responses
Underlie
Allergy
Immunology
Yayın Tarihi: 7-Haz-2017
Yayıncı: Mosby-Elsevier
Atıf: Leiding, J. W. vd. (2018). "Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations". Journal of Allergy and Clinical Immunology, 141(2), 704-717.
Özet: Background: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life-threatening. Hematopoietic stem cell transplantation (HSCT) has been used in some patients with more severe symptoms to treat and cure the disorder. However, the outcome of HSCT for this disorder is not well established. Objective: We sought to aggregate the worldwide experience of HSCT in patients with GOF-STAT1 mutations and to assess outcomes, including donor engraftment, overall survival, graft-versus-host disease, and transplant-related complications. Methods: Data were collected from an international cohort of 15 patients with GOF-STAT1 mutations who had undergone HSCT-using a variety of conditioning regimens and donor sources. Retrospective data collection allowed the outcome of transplantation to be assessed. In vitro functional testing was performed to confirm that each of the identified STAT1 variants was in fact a GOF mutation. Results: Primary donor engraftment in this cohort of 15 patients with GOF-STAT1 mutations was 74%, and overall survival was only 40%. Secondary graft failure was common (50%), and posttransplantation event-free survival was poor (10% by 100 days). Asubset of patients had hemophagocytic lymphohistiocytosis before transplant, contributing to their poor outcomes. Conclusion: Our data indicate that HSCT for patients with GOF-STAT1 mutations is curative but has significant risk of secondary graft failure and death.
Açıklama: Çalışmada 35 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır.
URI: https://doi.org/10.1016/j.jaci.2017.03.049
https://www.sciencedirect.com/science/article/pii/S0091674917309168
http://hdl.handle.net/11452/29997
ISSN: 0091-6749
1097-6825
Koleksiyonlarda Görünür:PubMed
Scopus
Web of Science

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