Immunodeficiency, Common Variable, 13 (CVID13)

Alias:
Pancytopenia Due to Ikzf1 Mutations
Cvid13
Combined Immunodeficiency Due to Ikaros Deficiency
Common Variable Immunodeficiency 13
Cid Due to Ikaros Deficiency
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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,常见变异型13,也被称为由于ikzf1突变导致的全血细胞减少症。与免疫缺陷,常见变异型13有关的重要基因是IKZF1(IKAROS家族锌指1)。相关组织包括B细胞和T细胞,相关表型包括多羊水和胎儿窘迫。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
19
7

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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