Puzenat E, Rohrlich P, Thierry P, Girardin P, Taghian M, Ouachee M, Plouvier E, Fischer A, Humbert P, Aubin F
Department of Dermatology, University Hospital, 25030 Besançon cedex, France.
Eur J Dermatol. 2007 Mar-Apr;17(2):137-9. doi: 10.1684/ejd.2007.0126. Epub 2007 Mar 2.
Omenn syndrome is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and failure to thrive, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma. Investigations revealed a marked neutropenia and lymphopenia and the absence of a thymus. Genetic studies showed RAG 1 mutations. He was successfully treated with an HLA identical bone marrow transplantation. Omenn syndrome is a rare severe combined immunodeficiency. Most cases are due to mutations in the RAG genes with autosomal recessive transmission. Our observation is original because of an incomplete clinical presentation. During the course of the disease, the child had no failure to thrive, no organomegaly and no recurrent infection. Immunodeficiency must be excluded in every case of neonatal erythroderma and an immunological assessment should be performed without delay.
奥门综合征是一种严重的联合免疫缺陷病，其特征为红皮病、肝脾肿大、淋巴结病和生长发育迟缓，伴有活化的寡克隆T淋巴细胞且循环B细胞缺乏。一名3日龄男婴出现先天性红皮病。检查发现明显的中性粒细胞减少和淋巴细胞减少，且无胸腺。基因研究显示RAG 1突变。他通过 HLA 配型相同的骨髓移植获得成功治疗。奥门综合征是一种罕见的严重联合免疫缺陷病。大多数病例是由于RAG基因突变导致常染色体隐性遗传。我们的观察具有独特性，因为临床表现不完整。在疾病过程中，该患儿没有生长发育迟缓、没有器官肿大且没有反复感染。对于每一例新生儿红皮病都必须排除免疫缺陷，应立即进行免疫学评估。
