Ectodermal Dysplasia and Immunodeficiency 1 (EDAID1)

外胚层发育不良和免疫缺陷1型(来自ICD-11)

别称:

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema

Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Oledaid

Edaid1

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema

Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia

Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked

Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency

Ectodermal Dysplasia Hypohidrotic with Immunodeficiency

Ectodermal Dysplasia Anhidrotic with Immune Deficiency

Dysplasia, Ectodermal, and Immunodeficiency, Type 1

Nemo Deficiency

Ol-Eda-Id

Eda-Id

Hed-Id

Xhm-Ed

Hedid

Xhmed

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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

外胚层发育不良和免疫缺陷1，也称为外胚层发育不良、无汗性、伴有免疫缺陷、骨质硬化和淋巴水肿，与免疫缺陷33和外胚层发育不良和免疫缺陷有关。与外胚层发育不良和免疫缺陷1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/超级通路包括人类冠状病毒-干扰素诱导的宿主-病原体相互作用和核苷酸结合寡聚化域（NOD）通路。附属组织包括皮肤和骨骼，相关表型包括前额突出和淋巴水肿。

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