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

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

ChEBI2015-11-25 更新2026-07-12 收录

遗传性免疫缺陷

基因突变致病性分析

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-75314 数据链接链接失效反馈

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资源简介：

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

应用场景：

创建时间：

2015-11-25

遗传性免疫缺陷

基因突变功能分析

This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified a single de novo missense variant in

NIAID Data Ecosystem100

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

β-Thalassemia Trait Caused by a SUPT5H Defect: First Report of an Intragenic Deletion

地中海贫血遗传学

基因突变致病性分析

β-Thalassemia Trait Caused by a SUPT5H Defect: First Report of an Intragenic Deletion

Figshare2025-07-17 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

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

遗传性噬血细胞综合征

基因突变致病性分析

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

Figshare2020-08-24 更新40