首页/数据集/A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

ChEBI2015-11-25 更新2026-07-12 收录

遗传性免疫缺陷

基因变异与疾病关联

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-75358 数据链接链接失效反馈

官方服务：

资源简介：

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

应用场景：

创建时间：

2015-11-25

相关数据集

Homo sapiens Exome

遗传性免疫缺陷

抗分枝杆菌免疫

ISG15 is an IFN-a/Ã-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. We describe human patients with inhe

NIAID Data Ecosystem80

Human IL23 is essential for IFN-g dependent immunity to mycobacteria

遗传性免疫缺陷

宿主抗病毒免疫

Patients with autosomal recessive IL12p40 or IL12RB1 deficiency display Mendelian susceptibility to mycobacterial disease due to impaired IFNg production and, less commonly, chronic mucocutaneous cand

NIAID Data Ecosystem50

Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome

生殖系统表观遗传学

基因变异与疾病关联

The hotspots of structural polymorphisms and structural mutability in the human genome remain to be explained mechanistically. We examine associations of structural mutability with germline DNA methyl

Figshare2016-01-19 更新20

Table_1_Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.pdf

遗传性免疫缺陷

表型-基因关联

Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in chromosome 11. The clinical presentation is variable. Although immunodeficiency has been described in patients with

NIAID Data Ecosystem70

The molecular and clinical details of variants identified in EB patients.

大疱性表皮松解症遗传学

基因变异与疾病关联

The molecular and clinical details of variants identified in EB patients.

Figshare2025-09-16 更新20