Jaouad I Cherkaoui, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A
Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Indian J Pediatr. 2008 Sep;75(9):944-6. doi: 10.1007/s12098-008-0197-0. Epub 2008 Nov 15.
Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.
欧门综合征是一种严重联合免疫缺陷病，伴有红皮病、肝脾肿大、淋巴结病和脱发。重组激活基因1和2（RAG1和RAG2）以及ARTEMIS基因的遗传性低功能突变，以及最近发现的IL7RA和RMRP基因缺陷，被认为是导致这种特殊免疫缺陷的原因。作者在此报告一名4个月大的摩洛哥患者，具有欧门综合征的典型特征，其RAG1基因N端部分存在缺失。早期识别这种疾病对于遗传咨询和早期治疗很重要。
