Article

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations

2020-07-15

Abstract excerpt

<h4>Background: </h4> Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead to immune dysregulation diseases. We retrospectively analyzed the age, common clinical symptoms, immunologic and molecular manifestations in 11 patients with LOF STAT...

Topics

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

Identifiers and source

Literature Corpus work: 9deb8d2c-bccf-5f9c-b692-bab6acbdecb8
DOI: 10.21203/rs.3.rs-21778/v3

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutationsDOI 10.21203/rs.3.rs-21778/v3Read

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

Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.Semantic proximity Read

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.Semantic proximity Read

Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: Single-center cohort analysis.Semantic proximity Read

Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China.Semantic proximity Read

Autosomal dominant hyper IgE syndrome from a single centre in Chongqing, China (2009-2018).Semantic proximity Read

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.Semantic proximity Read

The ups and downs of STAT3 function: too much, too little and human immune dysregulation.Semantic proximity Read

Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable Expressivity.Semantic proximity Read

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.Semantic proximity Read

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.Semantic proximity Read

Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.Semantic proximity Read