Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis
Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis
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DOI：
10.1111/j.1399-3038.2012.01282.x
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发表时间：
2012-08-01
影响因子：
4.4
通讯作者：
Miyawaki, Toshio
中科院分区：
文献类型：
--
作者：
Kanegane, Hirokazu;Yang, Xi;Miyawaki, Toshio
引用这篇文章：Kanegane H，Yang Xi，Zhao M，Yamato K，Inoue M，Hamamoto K，小小林C，Hosono A，Ito Y，Nakazawa Y，Terui K，Kogawa K，石井E，Sumazaki R，Miyawaki T.流式细胞术和遗传学分析相结合鉴定日本1型X连锁淋巴组织增生综合征（SAP缺陷）的临床特征和结局儿科过敏免疫学2012：23：488493。摘要目的：X连锁淋巴组织增生综合征（XLP）1型是一种罕见的免疫缺陷病，由SH 2D 1A基因突变引起。XLP的预后很差，造血干细胞移植（HSCT）是唯一的治疗方法。我们描述了日本XLP-1患者的临床特征和结局。研究方法：我们使用流式细胞术分析和遗传分析相结合，以确定XLP-1和审查患者的特点和生存与HSCT。结果：我们确定了来自日本21个家庭的33例XLP-1患者。21名未接受移植的患者（65%）死于疾病和并发症。12例患者接受了HSCT，其中11例（92%）存活。结论：我们描述了日本XLP-1患者的临床特征和结局，HSCT是XLP-1的唯一治愈性治疗方法。流式细胞术与遗传学分析相结合对XLP的快速、准确诊断具有重要意义。
To cite this article: Kanegane H, Yang Xi, Zhao M, Yamato K, Inoue M, Hamamoto K, Kobayashi C, Hosono A, Ito Y, Nakazawa Y, Terui K, Kogawa K, Ishii E, Sumazaki R, Miyawaki T. Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. Pediatric Allergy Immunology 2012: 23: 488493. Abstract Objective: X-linked lymphoproliferative syndrome (XLP) type 1 is a rare immunodeficiency, which is caused by mutations in SH2D1A gene. The prognosis of XLP is very poor, and hematopoietic stem cell transplantation (HSCT) is the only curative therapy. We characterized the clinical features and outcome of Japanese patients with XLP-1. Methods: We used a combination of flow cytometric analysis and genetic analysis to identify XLP-1 and reviewed the patient characteristics and survival with HSCT. Results: We identified 33 patients from 21 families with XLP-1 in Japan. Twenty-one of the patients (65%) who did not undergo a transplant died of the disease and complications. Twelve patients underwent HSCT, and 11 of these (92%) survived. Conclusion: We described the clinical characteristics and outcomes of Japanese patients with XLP-1, and HSCT was the only curative therapy for XLP-1. The rapid and accurate diagnosis of XLP with the combination of flow cytometric assay and genetic analysis is important.