Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia (XMEN)

伴镁缺乏、EPSTEIN-BARR病毒感染及肿瘤的X染色体连锁免疫缺陷病(来自ICD-11)

别称:

Xmen

X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia

Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia

X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia

Combined Immunodeficiency Due to Magt1 Deficiency

Cid Due to Magt1 Deficiency

X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection an

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

X-连锁免疫缺陷伴镁缺乏、Epstein-Barr病毒感染和肿瘤，也称为Xmen，与淋巴细胞减少和先天性糖基化障碍有关。与X-连锁免疫缺陷伴镁缺乏、Epstein-Barr病毒感染和肿瘤相关的基因是MAGT1（镁转运蛋白1），其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和糖基化及相关先天缺陷。在该疾病的背景下，已提到的药物有硫酸镁和麻醉剂。相关组织包括T细胞和B细胞，相关表型包括脾肿大和复发性中耳炎。

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