Article

Human Germline Heterozygous Gain-of-Function <i>STAT6</i> Variants Cause Severe Allergic Disease

2022-04-28

Abstract excerpt

<h4>ABSTRACT</h4> STAT6 (Signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. STAT6 mediates the biological effects of IL-4, a cytokine necessary for type 2 differentiation of T cells and B cell survival, proliferation and class switching to IgE. We have identificated two unrelated patients with a phenotype notable...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d71ddde6-d130-56c9-a7b4-fd47d9ebdca1
DOI: 10.1101/2022.04.25.22274265

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Human Germline Heterozygous Gain-of-Function <i>STAT6</i> Variants Cause Severe Allergic DiseaseDOI 10.1101/2022.04.25.22274265Read

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

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

Autosomal dominant STAT6 gain of function causes severe atopy associated with lymphomaSemantic proximity Read

STAT6 gain-of-function variant exacerbates multiple allergic symptomsSemantic proximity Read

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with LymphomaSemantic proximity Read

Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyondSemantic proximity Read

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

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

A gain-of-function mutation in STAT6.Semantic proximity Read

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.Semantic proximity Read

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

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