Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome (PFITS)

Alias:
Lazy Leukocyte Syndrome
Pfits
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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
周期性发热、免疫缺陷和血小板减少症,也被称为懒白细胞综合征。与周期性发热、免疫缺陷和血小板减少症相关的基因是WDR1(WD重复域1)。相关组织包括骨髓和中性粒细胞,相关表型包括复发性感染和B淋巴细胞减少。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
6
12

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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