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Bulk RNA sequencing analysis of a patient with an immunodeficiency caused by a novel homozygous missense variant in HYOU1

ChEBI2025-08-25 更新2026-07-12 收录

免疫缺陷遗传机制

RNA测序疾病关联

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-MTAB-15443 数据链接链接失效反馈

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资源简介：

Bulk RNA sequencing analysis of a patient with an immunodeficiency caused by a novel homozygous missense variant in HYOU1

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创建时间：

2025-08-25

免疫缺陷遗传机制

信号通路功能验证

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

NIAID Data Ecosystem70

Hypomorphic Rag1 mutations alter the pre-immune repertoire at early stages of lymphoid development

淋巴细胞发育

免疫缺陷遗传机制

Hypomorphic RAG1 mutations allowing residual T and B cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI

NIAID Data Ecosystem40

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia. Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

免疫缺陷遗传机制

干细胞研究

Newborn screening for immunodeficiency has led to the identification of numerous cases for which the causal etiology is unknown. Here we report the diagnosis of T lymphopenia of unknown etiology in a

NIAID Data Ecosystem10

Transcriptomic profiling of transduced human CD4 T cell expressing different IRF4 mutants

T细胞转录组学

免疫缺陷遗传机制

A heterozygous IRF4 missense variant located within the interferon activation domain of the encoded IRF4 protein (mutIAD) was identified in three patients from a multigenerational family suffering fro

NIAID Data Ecosystem50

Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice

免疫缺陷遗传机制

基因突变功能

The severe combined immune deficiency (SCID) mouse was reported as an animal model for human immune deficiency. Through the course of several studies, the DNA-dependent protein kinase catalytic subuni

PubMed Central1997-03-18 更新20

Bulk RNA sequencing analysis of a patient with an immunodeficiency caused by a novel homozygous missense variant in HYOU1

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