Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
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DOI：
10.2332/allergolint.55.115
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发表时间：
2006-06-01
期刊：
影响因子：
--
通讯作者：
Yachie, Akihiro
中科院分区：
文献类型：
--
作者：
Kato, Masahiko;Kimura, Hirokazu;Yachie, Akihiro
Omenn 综合征 (OS) 是一种严重联合免疫缺陷 (SCID)，其特征为红皮病、肝脾肿大、淋巴结肿大和脱发。在 OS 患者中，B 细胞大多缺失，T 细胞计数正常或升高，T 细胞频繁激活并表达限制性 T 细胞受体 (TCR) 库。迄今为止，在大多数 OS 患者中已检测到重组激活基因 1 或 2 (RAG1/2) 的遗传性亚等位突变。我们最近经历了一个罕见的 OS 病例，显示由于多个第二位点突变导致的回复镶嵌现象，导致典型的 OS 临床特征（RAG1 缺陷 SCID）。在这篇综述中，我们将重点关注 OS 的几种表型的变异。
Omenn syndrome (OS) is a form of severe combined immunodeficiency (SCID) characterized by erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire. Thus far, inherited hypomorphic mutations of the recombination activating genes either 1 or 2 (RAG1/2) have been detected in most OS patients. We have recently experienced a rare case of OS showing the revertant mosaicism due to multiple second-site mutations leading to typical OS clinical features with RAG1-deficient SCID. In this review, we will focus on the variation of several phenotypes of OS.