Immunodeficiency 33 (IMD33)

免疫缺陷33型(来自ICD-11)

别称:

Imd33

X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Ikbkg Deficiency

X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Nemo Deficiency

Invasive Pneumococcal Disease, Recurrent Isolated, 2

X-Linked Msmd Due to Ikbkg Deficiency

X-Linked Msmd Due to Nemo Deficiency

Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

X-Linked Disseminated Atypical Mycobacterial Infection Type 1

Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

X-Linked Susceptibility to Mycobacterial Disease Type 1

Recurrent Isolated Invasive Pneumococcal Disease 2

Familial, X-Linked, Atypical Mycobacteriosis 1

Atypical Mycobacteriosis, Familial, X-Linked 1

X-Linked Immunodeficiency 33, Mycobacteriosis

Ipd2, Formerly

Amcbx1

Ipd2

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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

免疫缺陷33，也称为imd33，与由于ikbkg缺陷和糖原贮积病IV导致的X连锁孟德尔对结核分枝杆菌易感性有关。与免疫缺陷33有关的重要基因是IKBKG（核因子κB激酶抑制子γ调节亚基），其相关通路/超级通路包括IL-1家族信号通路和VEGF通路（Qiagen）。附属组织包括B细胞，相关表型为免疫缺陷和反复细菌感染。

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