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

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment

9 May 2025

Abstract excerpt

This case report presents a new genetic variant that causes STAT6 gain-of-function disease in 2 patients, expands the clinical phenotype of STAT6 gain-of-function disease, and describes its authors' success in using therapeutics to manage this rare disease.

Read the complete abstract on PubMed

Topics

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

Share to Blood disorders and treatments
Share to Cytokine Signaling Pathways and Interactions
Share to Immunodeficiency and Autoimmune Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40502541
DOI: 10.1016/j.jacig.2025.100494

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatmentPMID 40502541Read ↗

A De Novo STAT6 p.D419G Variant Causing Severe Multi-Organ Allergic Disease: Case Report on a Transformative Response with DupilumabSemantic proximity Read ↗

Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic diseaseSemantic proximity Read ↗

A germline STAT6 gain-of-function variant is associated with early-onset allergiesSemantic proximity Read ↗

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.Semantic proximity Read ↗

Practical challenges for functional validation of STAT1 gain of function genetic variants.Semantic proximity Read ↗

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic DiseaseSemantic proximity Read ↗

A novel gain-of-function mutation in STAT5B is associated with treatment-resistant severe atopic dermatitis.Semantic proximity Read ↗

Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 VariantSemantic proximity Read ↗

Human Germline Heterozygous Gain-of-Function <i>STAT6</i> Variants Cause Severe Allergic DiseaseSemantic proximity Read ↗

De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expressionSemantic proximity Read ↗

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.Semantic proximity Read ↗

Relieving job: Dupilumab in autosomal dominant STAT3 hyper-IgE syndrome.Semantic proximity Read ↗

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