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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 32a (IMD32A)
Alias:
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Irf8 Deficiency
Imd32a
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Regulatory Factor 8 Deficiency
Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant
Msmd Due to Partial Irf8 Deficiency
Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant
Autosomal Dominant Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency
Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis
Irf8 Deficiency, Autosomal Dominant
Autosomal Dominant Irf8 Deficiency
Immunodeficiency, Type 32a
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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32a,也称为部分IRF8缺乏导致的结核病易感性,与马尾神经综合征和虱子感染有关。与免疫缺陷32a有关的重要基因是IRF8(干扰素调节因子8)。附属组织包括髓系,相关表型为发热和免疫系统生理异常。
Related ID:
MALACARDS:IMM183
OMIM:614893
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
2
19
2
IMM183
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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