Immunodeficiency 28 (IMD28)

Alias:
Ifngr2 Deficiency
Imd28
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 2 Deficiency
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar2 Deficiency
Msmd Due to Complete Interferon Gamma Receptor 2 Deficiency
Immunodeficiency 28, Mycobacteriosis, Autosomal Recessive
Msmd Due to Complete Ifngammar2 Deficiency
Immunodeficiency 28, Mycobacteriosis
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 2 Deficiency
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 2 Deficiency
Autosomal Recessive Msmd Due to Partial Ifngammar2 Deficiency
Immunodeficiency, Type 28, Mycobacteriosis
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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28,也称为干扰素γ受体2缺陷,与克里米亚-刚果出血热和寨卡热有关。与免疫缺陷28有关的重要基因是IFNGR2(干扰素γ受体2),其相关通路/超通路包括先天免疫系统和TGF-β通路。相关表型为免疫缺陷和复发性结核分枝杆菌感染。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
11
110
11

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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