Clinical Immunology Unit, Infectious Disease Department, Children Hospital, Ibn Rochd University Hospital, Casablanca, Morocco; Cellular and Molecular Pathology Laboratory, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco; Clinical Immunology, Autoimmunity and Inflammation Laboratory (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Laboratory of Genomics and Human Genetics,Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360 Casablanca, Morocco; Laboratory of Biosciences, Integrated and Molecular Functional Exploration (LBEFIM), Faculty of Science and Technology of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco.
Immunobiology. 2021 May;226(3):152090. doi: 10.1016/j.imbio.2021.152090. Epub 2021 Apr 28.
Omenn syndrome (OS) is a type of severe combined immunodeficiency (SCID) that is distinguished by, lymphadenopathy, hepatosplenomegaly, erythroderma, alopecia with normal to elevated T-cell counts, eosinophilia, and elevated serum IgE levels. Recombination activation gene (RAG) 1 or RAG2 mutations that result in partial V(D)J recombination activity are known to be the main cause of OS. Other genes (DCLRE1C, LIG4, IL7RA, common gamma chain, ADA, RMRP, and CHD7) have also been linked to OS, although with low frequency. Here, we report a two-month-old Moroccan girl from consanguineous marriage with chronic diarrhea, recurrent and opportunistic infections, failure to thrive, desquamative erythroderma, hepatosplenomegaly, and axillary lymphadenitis. The immunological assessment showed normal lymphocyte and NK cell counts but an absence of B cells, agammaglobulinemia contrasting with a high level of IgE. On the other hand, Sanger sequencing of RAG1 and RAG2 exon 2 regions revealed a new homozygous deleterious mutation in the RAG1 gene. This c.1184C > T mutation caused a change from Proline to Leucine at position 395 of the protein, leading to a partial loss of function. Early and rapid diagnosis of the disease may facilitate urgent life-saving treatment.
奥姆enn 综合征（OS）是一种严重联合免疫缺陷（SCID），其特征为淋巴结病、肝脾肿大、红皮病、脱发伴正常或升高的 T 细胞计数、嗜酸性粒细胞增多和血清 IgE 水平升高。已知导致部分 V(D)J 重组活性的重组激活基因（RAG）1 或 RAG2 突变是 OS 的主要原因。其他基因（DCLRE1C、LIG4、IL7RA、共同γ链、ADA、RMRP 和 CHD7）也与 OS 有关，但频率较低。在这里，我们报告了一名来自近亲结婚的两个月大的摩洛哥女孩，患有慢性腹泻、反复和机会性感染、生长不良、脱屑性红皮病、肝脾肿大和腋窝淋巴结炎。免疫评估显示正常的淋巴细胞和 NK 细胞计数，但缺乏 B 细胞，无丙种球蛋白血症与高 IgE 水平形成对比。另一方面，RAG1 和 RAG2 外显子 2 区域的 Sanger 测序显示 RAG1 基因中存在新的纯合性有害突变。该 c.1184C>T 突变导致蛋白质第 395 位脯氨酸突变为亮氨酸，导致部分功能丧失。早期和快速诊断疾病可能有助于紧急救生治疗。
