Abstract：
UNASSIGNED: Background. Severe combined immunodeficiency (SCID) is a form of immunodeficiencies (PID), caused by molecular defects. These defects can restrict the development and function of lymphocytes. Early diagnosis and treatment of SCID can lead to disease-free survival. This study aims to investigate some of the possible underlying genetic defects in a group of Egyptian infants and children with clinical and immunological profiles suggestive of SCID. Methods. This study included eighty patients who showed clinical warning signs of immunodeficiency. Subjects were thoroughly examined clinically. Laboratory evaluation included immunoglobulins serum levels and flow cytometric assessment of immune cells. This testing showed an altered immune profile in thirty patients. They had decreased T and/or B lymphocytes or natural killer cells. DNA extraction was done for those cases. The coding regions of the RAG1 gene and RAG2 gene was investigated for hot spot mutations by sequencing technique guided by the patient clinical evaluation, inheritance pattern, immunophenotyping by flow cytometric analysis of lymphocyte subsets, and serum immunoglobulins level detection. Results. Results showed novel and previously reported variants (mutation, polymorphism), they were found in 18 cases which include variants in the RAG1 gene (E880K, A960A, H249R, S913R, K820R, V782G), and variants in the RAG2 gene (P501T, L514M, rs10836573, cDNA.2129A>T). Conclusions. To evaluate SCID patients completely, mutation gene analysis is highly required and recommended.
摘要：
未经评估：背景。严重联合免疫缺陷(SCID)是免疫缺陷(PID)的一种形式，由分子缺陷引起的。这些缺陷会限制淋巴细胞的发育和功能。SCID的早期诊断和治疗可导致无病生存。Objective.这项研究旨在调查一组具有SCID临床和免疫学特征的埃及婴儿和儿童中一些可能的潜在遗传缺陷。方法。这项研究包括80名表现出免疫缺陷临床警告症状的患者。对受试者进行了彻底的临床检查。实验室评估包括免疫球蛋白血清水平和免疫细胞的流式细胞术评估。该测试显示30名患者的免疫谱改变。他们的T和/或B淋巴细胞或自然杀伤细胞减少。对这些病例进行了DNA提取。在患者临床评价的指导下，通过测序技术研究了RAG1基因和RAG2基因的编码区是否存在热点突变。继承模式,通过流式细胞术分析淋巴细胞亚群的免疫表型，和血清免疫球蛋白水平检测。结果。结果显示新的和以前报道的变异(突变，多态性)，在18例包括RAG1基因变异的病例中发现了它们(E880K，A960A,H249R,S913R,K820R,V782G),和RAG2基因的变体（P501T，L514M,rs10836573,cDNA2129A>T)。Conclusions.完全评估SCID患者；高度需要并推荐突变基因分析。
