Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation (IDAIL)

Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation(来自ICD-11)
别称:
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency
Autoimmune Lymphoproliferative Syndrome, Type V
Chai
Ctla-4 Haploinsufficiency with Autoimmune Infiltration Disease
Alps Due to Ctla4 Haploinsuffiency
Idail
Alps5
Ctla4 Haploinsufficiency with Autoimmune Infiltration
Autoimmune Lymphoproliferative Syndrome Type V
Autoimmune Lymphoproliferative Syndrome 5
Lymphoproliferative Disorders
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation, also known as autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency, is related to pontocerebellar hypoplasia, type 14 and pontocerebellar hypoplasia, type 15, and has symptoms including diarrhea An important gene associated with Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4). The drugs Tacrolimus and Basiliximab have been mentioned in the context of this disorder. Affiliated tissues include t cells and bone marrow, and related phenotypes are decreased circulating antibody level and splenomegaly
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
AD
Child
<1/1000000
1
11
27

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