Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations
Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations
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DOI：
10.1542/peds.2009-3171
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发表时间：
2010-11-01
期刊：
影响因子：
8
通讯作者：
Holland, Steven M.
中科院分区：
文献类型：
--
作者：
Avila, Elizabeth Mannino;Uzel, Gulbu;Holland, Steven M.
导致部分蛋白质功能“渗漏”的严重联合免疫缺陷表现的亚型突变越来越多地被确定。重组激活基因（RAG）1和2的突变导致免疫缺陷和失调，从严重的联合免疫缺陷到Omenn综合征到更轻微的免疫缺陷。我们在这里报告的情况下，3例亚型RAG 1突变与不同的介绍。1例患者有肉芽肿性皮肤病和播散性非结核分枝杆菌;第2例患者主要表现为自身免疫性表现;第3例患者出现相对较晚的感染，并有孤立的T细胞淋巴细胞减少症。这些不同的和非典型的亚型RAG 1突变突出了RAG 1在免疫功能和自身免疫中的作用，并扩大了与这些基因相关的疾病谱。儿科2010; 126：e1248-e1252
Hypomorphic mutations that lead to "leaky" severe combined immunodeficiency presentation with partial protein function are increasingly being identified. Mutations in recombination-activating genes (RAGs) 1 and 2 cause immunodeficiency and dysregulation ranging from severe combined immunodeficiency to Omenn syndrome to more mild immunodeficiencies. We report here the cases of 3 patients with hypomorphic RAG1 mutations with distinct presentations. One patient had granulomatous skin disease and disseminated nontuberculous mycobacteria; the second patient presented with predominantly autoimmune manifestations; and the third patient presented with relatively late onset of infections and had isolated T-cell lymphopenia. These disparate and atypical presentations of hypomorphic RAG1 mutations highlight the role of RAG1 in immune function and autoimmunity and expand the disease spectrum linked to these genes. Pediatrics 2010; 126: e1248-e1252