Article

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain-of-Function (GOF) Mutations – 10 Children and Review of the Literature

2022-01-20

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction.</bold> Since the first description of gain of function (GOF) mutations in Signal Transducer and Activator of Transcription (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including infections and severe immune dysregulation. Whilst Jak inhibitors (JAKinibs) have demonstrated benefits in several reported cases, its indications, dos...

Topics

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

Identifiers and source

Literature Corpus work: ae3cf571-fe14-565d-9da0-a87309fd269f
DOI: 10.21203/rs.3.rs-1231747/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain-of-Function (GOF) Mutations – 10 Children and Review of the LiteratureDOI 10.21203/rs.3.rs-1231747/v1Read

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the LiteratureSemantic proximity Read

The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies.Semantic proximity Read

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

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

JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.Semantic proximity Read

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

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

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literatureSemantic proximity Read

The Goldilocks Principle of JAKs and STATs: Gain-of function mutations, loss-of-function mutations, and their clinical consequencesSemantic proximity Read

Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.Semantic proximity Read

Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function.Semantic proximity Read

SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?Semantic proximity Read