The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

doi:10.1007/s10875-015-0214-9

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

Community

Back to search

Article

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Journal of clinical immunology - 1 Jan 2016

Depner Mark, Fuchs Sebastian, Raabe Jan, Frede Natalie, Glocker Cristina, Doffinger Rainer, Gkrania-Klotsas Effrossyni, Kumararatne Dinakantha, Atkinson T Prescott, Schroeder Harry W, Niehues Tim, Dückers Gregor, Stray-Pedersen Asbjørg, Baumann Ulrich, Schmidt Reinhold, Franco Jose L, Orrego Julio, Ben-Shoshan Moshe, McCusker Christine, Jacob Cristina Miuki Abe, Carneiro-Sampaio Magda, Devlin Lisa A, Edgar J David M, Henderson Paul, Russell Richard K, Skytte Anne-Bine, Seneviratne Suranjith L, Wanders Jennifer, Stauss Hans, Meyts Isabelle, Moens Leen, Jesenak Milos, Kobbe Robin, Borte Stephan, Borte Michael, Wright Dowain A, Hagin David, Torgerson Troy R, Grimbacher Bodo

Abstract excerpt

PURPOSE: Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resulting in the clinical picture of chronic mucocutaneous candidiasis (CMC). This study aims to assess the frequency of GOF STAT1...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Candidiasis, Chronic Mucocutaneous

Share to Cells, Cultured

Share to Cytokines

Share to DNA Mutational Analysis

Share to Immunologic Deficiency Syndromes

Share to Leukocytes, Mononuclear

Share to Protein Structure, Tertiary

Share to STAT1 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 26604104
DOI: 10.1007/s10875-015-0214-9
PMCID: PMC4718942

Genes

STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.PMID 26604104Read ↗

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT 1Semantic proximity Read ↗

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.Semantic proximity Read ↗

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

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.Semantic proximity Read ↗

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory researchSemantic proximity Read ↗

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

A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.Semantic proximity Read ↗

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.Semantic proximity Read ↗

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.Semantic proximity Read ↗

Gain-of-Function Mutations inSTAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined ImmunodeficienciesSemantic proximity Read ↗

STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.Semantic proximity Read ↗

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.Semantic proximity Read ↗

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