Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
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DOI：
10.1016/j.jaci.2017.10.041
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
中科院分区：
文献类型：
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作者：
Barzaghi F;Amaya Hernandez LC;Neven B;Ricci S;Kucuk ZY;Bleesing JJ;Nademi Z;Slatter MA;Ulloa ER;Shcherbina A;Roppelt A;Worth A;Silva J;Aiuti A;Murguia-Favela L;Speckmann C;Carneiro-Sampaio M;Fernandes JF;Baris S;Ozen A;Karakoc-Aydiner E;Kiykim A;Schulz A;Steinmann S;Notarangelo LD;Gambineri E;Lionetti P;Shearer WT;Forbes LR;Martinez C;Moshous D;Blanche S;Fisher A;Ruemmele FM;Tissandier C;Ouachee-Chardin M;Rieux-Laucat F;Cavazzana M;Qasim W;Lucarelli B;Albert MH;Kobayashi I;Alonso L;Diaz De Heredia C;Kanegane H;Lawitschka A;Seo JJ;Gonzalez-Vicent M;Diaz MA;Goyal RK;Sauer MG;Yesilipek A;Kim M;Yilmaz-Demirdag Y;Bhatia M;Khlevner J;Richmond Padilla EJ;Martino S;Montin D;Neth O;Molinos-Quintana A;Valverde-Fernandez J;Broides A;Pinsk V;Ballauf A;Haerynck F;Bordon V;Dhooge C;Garcia-Lloret ML;Bredius RG;Kałwak K;Haddad E;Seidel MG;Duckers G;Pai SY;Dvorak CC;Ehl S;Locatelli F;Goldman F;Gennery AR;Cowan MJ;Roncarolo MG;Bacchetta R;Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
免疫失调多内分泌病变肠病x连锁综合征（IPEX）是由FOXP3突变引起的单基因自身免疫性疾病。由于它是一种罕见的疾病，其自然史和对包括异体造血干细胞移植（HSCT）和免疫抑制（is）在内的治疗的反应尚未得到彻底的研究。本分析旨在评估长期IPEX幸存者的两种主要治疗方法的发病、进展和长期结果。从全球38家机构收集96例经遗传证实的IPEX综合征患者的临床病史并进行回顾性分析。为了研究可能适合预测预后的因素，我们开发了一个器官受累（OI）评分系统。我们确认新生儿发病与肠病，1型糖尿病，和湿疹。此外，我们发现在延迟发病患者或疾病发展过程中较不常见的表现。突变位点与病程或结果之间没有相关性，相同的基因型可以呈现不同的表型。HSCT患者（n = 58）的中位随访时间为2.7年（范围为1周-15年）。接受慢性IS治疗的患者（n = 34）的中位随访时间为4年（2个月-25年）。HSCT后总生存率为73.2% (95% CI, 59.4-83.0)， IS后总生存率为65.1% （95% CI, 62.8-95.8）。预处理成骨不全评分是移植后总生存的唯一显著预测因子（P = 0.035），但在IS下则不是。接受慢性IS的患者受到疾病复发或并发症的阻碍，影响长期无病生存。当对成骨不全评分较低的患者进行HSCT治疗时，患者的生活质量得到改善，与年龄、供体来源或治疗方案无关。
Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndromeis a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.
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影响因子：
1.1
作者：
Veys, Paul
通讯作者：
Veys, Paul
影响因子：
3.6
作者：
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作者：
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DOI：
10.1016/j.jaci.2008.09.027
发表时间：
2008-12-01
期刊：
The Journal of allergy and clinical immunology
影响因子：
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作者：
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通讯作者：
Bacchetta, Rosa
影响因子：
5.1
作者：
Bindl, L;Torgerson, T;Ruemmele, FM
通讯作者：
Ruemmele, FM