Immunodeficiency 113 with Autoimmunity and Autoinflammation (IMD113)

Alias:
Immunodeficiency 133 with Autoimmunity and Autoinflammation
Imd113
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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113伴自身免疫和自身炎症,也称为免疫缺陷133伴自身免疫和自身炎症。与免疫缺陷113伴自身免疫和自身炎症有关的重要基因是ARPC5(肌动蛋白相关蛋白2/3复合物亚基5)。附属组织包括T细胞和皮肤。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
3
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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