Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
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DOI：
10.1002/ajmg.a.36111
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发表时间：
2013-10
影响因子：
2
通讯作者：
Boerkoel, Cornelius F.
中科院分区：
文献类型：
--
作者：
Baradaran-Heravi, Alireza;Lange, Jonas;Asakura, Yumi;Cochat, Pierre;Massella, Laura;Boerkoel, Cornelius F.
Schimke 免疫性骨发育不良 (SIOD, OMIM 242900) 是一种罕见的常染色体隐性遗传多系统儿童疾病，其特征是身材矮小、肾功能衰竭、T 细胞免疫缺陷和对基因毒性药物过敏。 SIOD 与 SMARCAL1（SWI/SNF 相关基质相关肌动蛋白依赖性染色质调节因子，亚家族 a 样 1）的双等位基因突变相关，SMARCAL1 编码具有退火解旋酶活性的 DNA 应激反应酶。 SIOD 导致高发病率和死亡率的两个特征是骨髓衰竭和 T 细胞缺乏以及随之而来的机会性感染。为了解决 SIOD 中骨髓移植 (BMT) 的安全性和有效性，我们回顾了已知的仅有 5 名尝试过骨髓或造血干细胞移植的 SIOD 患者的结果。我们发现只有一名患者在移植过程中幸存下来，并且现有的骨髓移植良好预后指标在这个小队列中并不能预测。鉴于这些观察结果，我们还讨论了对不良结果的一些考虑因素。
Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1), which encodes a DNA stress response enzyme with annealing helicase activity. Two features of SIOD causing much morbidity and mortality are bone marrow failure and T-cell deficiency with the consequent opportunistic infections. To address the safety and efficacy of bone marrow transplantation (BMT) in SIOD we reviewed the outcomes of the only five SIOD patients known to us in whom bone marrow or hematopoietic stem cell transplantation has been attempted. We find that only one patient survived the transplantation procedure and that the existing indicators of a good prognosis for bone marrow transplantation were not predictive in this small cohort. Given these observations, we also discuss some considerations for the poor outcomes.
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影响因子：
2
作者：
Baradaran-Heravi, Alireza;Raams, Anja;Lubieniecka, Joanna;Cho, Kyoung Sang;DeHaai, Kristi A.;Basiratnia, Mitra;Mari, Pierre-Olivier;Xue, Yutong;Rauth, Michael;Olney, Ann Haskins;Shago, Mary;Choi, Kunho;Weksberg, Rosanna A.;Nowaczyk, Malgorzata J. M.;Wang, Weidong;Jaspers, Nicolaas G. J.;Boerkoel, Cornelius F.
通讯作者：
Boerkoel, Cornelius F.
影响因子：
1.3
作者：
de la Fuente, J.;Dyskeratosis, Dokal I.
通讯作者：
Dyskeratosis, Dokal I.
影响因子：
10.5
作者：
Bansbach, Carol E.;Betous, Remy;Cortez, David
通讯作者：
Cortez, David
影响因子：
5.1
作者：
Petty, EM;Yanik, GA;Castle, VP
通讯作者：
Castle, VP
影响因子：
10.1
作者：
Labrador, Jorge;Lopez-Anglada, Lucia;Ramon Gonzalez-Porras, Jose
通讯作者：
Ramon Gonzalez-Porras, Jose