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

Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.

Journal of clinical immunology - 1 Oct 2021

Duncan Christopher James Arthur, Hambleton Sophie

Abstract excerpt

STAT2 is distinguished from other STAT family members by its exclusive involvement in type I and III interferon (IFN-I/III) signaling pathways, and its unique behavior as both positive and negative regulator of IFN-I signaling. The clinical relevance of these opposing STAT2 functions is exemplified by monogenic diseases of STAT2. Autosomal recessive STAT2 deficiency results in heightened susceptibility to severe...

Read the complete abstract on PubMed

Topics

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

Share to Gain of Function Mutation
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Immune System Diseases

Share to Interferon Type I

Share to Loss of Function Mutation

Share to Phenotype

Share to Virus Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 34448086
DOI: 10.1007/s10875-021-01118-z
PMCID: PMC8390117

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.PMID 34448086Read ↗

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2Semantic proximity Read ↗

Loss of STAT2 may be dangerous in a world filled with viruses.Semantic proximity Read ↗

Spotlight: “Human STAT2 deficiency: a severe defect of antiviral immunity”Semantic proximity Read ↗

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.Semantic proximity Read ↗

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.Semantic proximity Read ↗

Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).Semantic proximity Read ↗

STAT wars: how STATopathies sabotage innate immunity.Semantic proximity Read ↗

JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.Semantic proximity Read ↗

Human diseases caused by impaired signal transducer and activator of transcription and Janus kinase signaling.Semantic proximity Read ↗

Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiencySemantic proximity Read ↗

A novel kindred with inherited STAT2 deficiency and severe viral illness.Semantic proximity Read ↗

Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease.Semantic proximity Read ↗

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