Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.
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十名海市蜃楼综合征患者的临床和免疫学分析。
DOI：
10.1007/s10875-020-00964-7
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Nonoyama S.
中科院分区：
文献类型：
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作者：
Mitsui-Sekinaka K;Narumi S;Sekinaka Y;Uematsu K;Yoshida Y;Amano N;Shima H;Hasegawa T;Nonoyama S.
致编辑：MIRAGE 综合征 (OMIM# 617053) 是一种由 SAMD9 功能获得性突变引起的罕见疾病 [1]。该疾病具有多种临床症状，包括血液学异常、反复感染、生长受限、先天性肾上腺发育不全、泌尿生殖系统异常和慢性腹泻。 MIRAGE综合征患者的预后极差，主要是由于反复发生严重感染。然而，人们对与这种疾病相关的免疫异常知之甚少。为了描述 MIRAGE 综合征的免疫学异常特征，我们收集了 10 名基因诊断为 MIRAGE 综合征的患者的临床特征（分析时年龄从 9 个月到 18 岁，中位数：2 岁零 6 个月），重点关注感染发作和其他并发症 [1-3]。然后，我们使用流式细胞术详细分析了淋巴细胞亚群，并测定了 T 细胞受体切除环 (TREC)、kappadeleting 重组切除环和多种血清细胞因子的水平。所有患者（或其监护人）均根据赫尔辛基入组原则提供了书面知情同意书。该研究得到了日本埼玉县国防医学院机构审查委员会的批准。所有十名患者均患有反复感染（肺炎、脑膜炎、败血症和皮肤粘膜感染）（补充表S1）。 7名患者患有肺炎克雷伯菌的严重细菌感染，
To the Editor: MIRAGE syndrome (OMIM# 617053) is a rare disease caused by gain-of-function mutations in SAMD9 [1]. The disease has various clinical symptoms including hematologic abnormalities, recurrent infections, growth restriction, congenital hypoplasia of the adrenal gland, genitourinary abnormalities, and chronic diarrhea. The prognosis of patients with MIRAGE syndrome is extremely poor, mainly due to recurrent severe infections. However, little is known about the immunological abnormalities associated with this disease. To characterize the immunological abnormalities of MIRAGE syndrome, we collected clinical features from ten patients, who were genetically diagnosed with MIRAGE syndrome (ranging from 9 months to 18 years old at the time of analysis, median: 2 years and 6 months), focusing on the infectious episodes and other complications [1–3]. Then, we analyzed lymphocyte subsets in detail using flow cytometry and determined the levels of T cell receptor excision circles (TRECs), kappadeleting recombination excision circles, and multiple serum cytokines. All patients (or their guardians) provided written informed consent in accordance with the Helsinki principles for enrollment. The study was approved by the Institutional Review Board of the National Defense Medical College, Saitama, Japan. All ten patients suffered from recurrent infections (pneumonia, meningitis, sepsis, and mucocutaneous infections)(Supplementary Table S1). Seven patients suffered from severe bacterial infections by Klebsiella pneumoniae sp.,