Immunodeficiency 30 (IMD30)

Alias:
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12rb1 Deficiency
Imd30
Mendelian Susceptibility to Interleukin 12 Receptor Beta 1 Deficiency
Msmd Due to Complete Interleukin 12 Receptor Beta 1 Deficiency
Msmd Due to Complete Il12rb1 Deficiency
Il12rb1 Deficiency
Immunodeficiency, Type 30
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
30号免疫缺陷,也被称为完全IL12RB1缺乏导致的孟德尔对结核分枝杆菌易感性,与完全IL12RB1缺乏导致的孟德尔对结核分枝杆菌易感性和孟德尔对结核分枝杆菌易感性有关。与30号免疫缺陷相关的基因是IL12RB1(白细胞介素12受体β1亚基),其相关通路/超级通路包括MHC II类抗原呈递的免疫反应和IL12介导的信号转导事件。相关组织包括NK细胞和T细胞,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
孩童期
--
9
62
35

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!
微信
信息比对
科研助手
使用教程
回到顶部