Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China.

Journal of clinical immunology - 1 Jan 2020

Chen Xuemei, Xu Qiling, Li Xiaolin, Wang Linlin, Yang Lu, Chen Zhi, Zeng Ting, Xue Xiuhong, Xu Tao, Wang Yanping, Jia Yanjun, Zhao Qin, Wu Junfeng, Liang Fangfang, Tang Xuemei, Yang Jun, An Yunfei, Zhao Xiaodong

Abstract excerpt

PURPOSE: Signal transducer and activator of transcription 1 (STAT1) is a transcription factor that mediates cellular responses to interferons (IFNs) and other cytokines and growth factors in diverse cell types. STAT1 gain-of-function (GOF) mutations result in an unexpectedly wide range of clinical features. It remains unclear why STAT1 GOF mutations result in such a broad spectrum of phenotypes. METHODS: We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CD4-Positive T-Lymphocytes
Share to Gain of Function Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Interferon-gamma

Share to Interleukin-17

Share to Killer Cells, Natural

Share to Penicillium

Share to Phosphorylation

Share to STAT1 Transcription Factor

Source

Identifiers

PMID: 31686315
DOI: 10.1007/s10875-019-00688-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China.PMID 31686315Read ↗

STAT1 and STAT3 mutations: important lessons for clinical immunologistsSemantic proximity Read ↗

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.Semantic proximity Read ↗

Genetic and Functional Identifying of Novel Autosomal Dominant STAT1 Loss-of-function Mutations in Patients with Diverse Clinical PhenotypesSemantic proximity Read ↗

Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.Semantic proximity Read ↗

Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.Semantic proximity Read ↗

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.Semantic proximity Read ↗

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutationsSemantic proximity Read ↗

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.Semantic proximity Read ↗

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.Semantic proximity Read ↗

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.Semantic proximity Read ↗

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea.Semantic proximity Read ↗

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.