Agammaglobulinemia 4, Autosomal Recessive (AGM4)

Alias:
Agammaglobulinemia 4
Agm4
Agammaglobulinemia, Autosomal Recessive, Due to Blnk Defect
Agammaglobulinemia Autosomal Recessive Due to Blnk Defect
Agammaglobulinemia, Type 4, Autosomal Recessive
B Cell Linker Protein Deficiency
B-Cell Linker Protein Deficiency
Blnk 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
先天性无丙种球蛋白血症4型,常染色体隐性遗传,也称为先天性无丙种球蛋白血症4型,与弥漫大B细胞淋巴瘤和B细胞前淋巴细胞白血病有关,症状包括腹泻。与先天性无丙种球蛋白血症4型,常染色体隐性遗传有关的重要基因是BLNK(B细胞连接蛋白),其相关通路/超级通路包括先天免疫系统和G蛋白偶联受体通路。相关组织包括B细胞和T细胞,相关表型包括复发性中耳炎和复发性肺炎。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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14
152
3

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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