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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Immunodeficiency 67 (IMD67)
Alias:
Irak4 Deficiency
Invasive Pneumococcal Disease, Recurrent Isolated
Ipd
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Interleukin-1 Receptor-Associated Kinase 4 Deficiency
Infantile Dystonia-Parkinsonism
Imd67
Pkdys
Invasive Pneumococcal Disease, Recurrent Isolated, 1
Recurrent Isolated Invasive Pneumococcal Disease 1
Irak-4 Deficiency
Ikak4d
Irak4d
Ipd1
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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67,也称为irak4缺陷,与免疫缺陷33和帕金森病-肌张力障碍1,婴儿型有关。与免疫缺陷67有关的重要基因是IRAK4(白介素1受体相关激酶4)。在该疾病的背景下提到了七价肺炎球菌结合疫苗和疫苗。附属组织包括nk细胞和t细胞,相关表型为免疫缺陷和肌张力障碍。
Related ID:
MALACARDS:IMM222
OMIM:607676
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
2
41
24
IMM222
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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