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

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

12 May 2016

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Immunodeficiency and Autoimmune Disorders
Share to Mycobacterium research and diagnosis
Share to Tuberculosis Research and Epidemiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27117246
DOI: 10.1016/j.jaip.2016.02.015

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

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literaturePMID 27117246Read ↗

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

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.Semantic proximity Read ↗

Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash.Semantic proximity Read ↗

Genetic and Functional Identifying of Novel Autosomal Dominant STAT1 Loss-of-function Mutations in Patients with Diverse Clinical PhenotypesSemantic proximity Read ↗

Inborn errors of STAT1 immunity.Semantic proximity Read ↗

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

Inborn error of WAS presenting with SARS-CoV-2-related multisystem inflammatory syndrome in childrenSemantic proximity Read ↗

Novel STAT1 gain-of-function mutation and suppurative infections.Semantic proximity Read ↗

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

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.Semantic proximity Read ↗

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

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like HyperinflammationSemantic proximity Read ↗

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