Immunodeficiency 110 with Lymphoproliferation (IMD110)

Alias:
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations
Combined Immunodeficiency Due to Stk4 Deficiency
Stk4 Deficiency
Mst1 Deficiency
Imd110
Tiiac
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with/without Cardiac Malformations
T-Cell Immunodeficiency, Recurrent Infections, Autoimmunity, and Cardiac Malformations
Cid Due to Stk4 Deficiency
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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110伴淋巴增殖,也称为T细胞免疫缺陷、反复感染和伴有或不伴有心脏畸形的自身免疫,与免疫缺陷病和淋巴细胞减少症有关。与免疫缺陷110伴淋巴增殖有关的重要基因是STK4(丝氨酸/苏氨酸激酶4)。相关组织包括T细胞和皮肤,相关表型为免疫缺陷和寻常疣。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
1
20
4

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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