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

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.

Journal of clinical immunology - 1 Jul 2018

Bloomfield Markéta, Kanderová Veronika, Paračková Zuzana, Vrabcová Petra, Svatoň Michael, Froňková Eva, Fejtková Martina, Zachová Radana, Rataj Michal, Zentsová Irena, Milota Tomáš, Klocperk Adam, Kalina Tomáš, Šedivá Anna

Abstract excerpt

PURPOSE: Signal transducer and activator of transcription 1 gain-of-function (STAT1 GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC). We aim to report the effect of oral ruxolitinib, the Janus kinase (JAK) family tyrosine kinase inhibitor, on clinical and immune status of a 12-year-old boy with severe CMC due to a novel STAT1 GOF mutation. METHODS: Clinical features and...

Read the complete abstract on PubMed

Topics

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

Share to Candidiasis, Chronic Mucocutaneous
Share to Gain of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Janus Kinases

Share to Nitriles

Share to Pyrazoles

Share to Pyrimidines

Share to STAT1 Transcription Factor

Share to T-Lymphocyte Subsets

Source

Identifiers

PMID: 29934865
DOI: 10.1007/s10875-018-0519-6

Genes

STAT1
STAT3
JAK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.PMID 29934865Read ↗

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

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.Semantic proximity Read ↗

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

Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.Semantic proximity Read ↗

Recurrent Oral Aphtha, Diarrhea, Pneumonia, And Respiratory Distress Since Infancy: STAT1 GOF defectSemantic proximity Read ↗

Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation.Semantic proximity Read ↗

Three adult cases of STAT1-gain-of-function with chronic mucocutaneous candidiasis treated with JAK inhibitorsSemantic proximity Read ↗

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal DiseaseSemantic proximity Read ↗

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

Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.Semantic proximity Read ↗

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.Semantic proximity Read ↗

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

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