Immunodeficiency 48 (IMD48)

Immunodeficiency 48(来自ICD-11)
别称:
Combined Immunodeficiency Due to Zap70 Deficiency
Zeta-Associated-Protein 70 Deficiency
Imd48
Selective T-Cell Defect
Stcd
Severe Combined Immunodeficiency, Atypical
Immunodeficiency, Type 48
Zap70 Deficiency
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 48, also known as combined immunodeficiency due to zap70 deficiency, is related to severe combined immunodeficiency, atypical and zap70-related severe combined immunodeficiency, and has symptoms including diarrhea An important gene associated with Immunodeficiency 48 is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells and lymph node, and related phenotypes are recurrent bacterial infections and recurrent viral infections
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Child
--
7
46
6

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top