Immunodeficiency 21 (IMD21)

免疫缺陷病21型(来自ICD-11)

别称:

Monocytopenia and Mycobacterial Infection Syndrome

Monocytopenia with Susceptibility to Infections

Monomac

Gata2 Deficiency

Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral and Fungal Infections

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Dendritic Cell, Monocyte, B and Nk Lymphoid Deficiency

Imd21

Dcml

Monocytopenia with Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia

Monocytopenia with Susceptibility to Mycobacterial Fungal and Papillomavirus Infections and Myelodysplasia

Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral, and Fungal Infections

Monocytopenia with Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia

Combined Immunodeficiency with Susceptibility to Mycobacterial Viral and Fungal Infections

Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency

Dendritic Cell Monocyte Lymphocyte B and Natural Killer Lymphocyte Deficiency

Combined Immunodeficiency with Mycobacterial, Viral, and Fungal Infections

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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

21号免疫缺陷，也被称为单核细胞减少症和结核分枝杆菌感染综合症，与NK细胞缺陷和全血细胞减少症有关。与21号免疫缺陷相关的基因是GATA2（GATA结合蛋白2），其相关通路/超级通路包括复制前复合物的组装、胚胎和诱导多能干细胞和特异性标记物。在该疾病的背景下提到了阿扎胞苷和他克莫司。附属组织包括骨髓和髓系，相关表型为再生障碍性贫血和免疫缺陷。

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