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

Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3.

Frontiers in immunology - 1 Jan 2021

Patrick Anna E, Lyons Eden M, Ishii Lisa, Boyd Alan S, Choi Joseph M, Dewan Anna K, Markle Janet G

Abstract excerpt

Neonatal multisystem onset inflammatory disorder (NOMID) is a severe autoinflammatory syndrome that can have an initial presentation as infantile urticaria. Thus, an immediate recognition of the clinical symptoms is essential for obtaining a genetic diagnosis and initiation of early therapies to prevent morbidity and mortality. Herein, we describe a neonate presenting with urticaria and systemic inflammation...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cryopyrin-Associated Periodic Syndromes

Share to Genetic Association Studies

Share to Immunohistochemistry

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Urticaria

Source

Open in PubMed Open full text

Identifiers

PMID: 34868041
DOI: 10.3389/fimmu.2021.775140
PMCID: PMC8636939

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3.PMID 34868041Read ↗

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.Semantic proximity Read ↗

Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases.Semantic proximity Read ↗

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).Semantic proximity Read ↗

NLRC4 inflammasomopathies.Semantic proximity Read ↗

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.Semantic proximity Read ↗

High incidence of <i>NLRP3</i> somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative studySemantic proximity Read ↗

Challenges in the Diagnosis of Infantile Enterocolitis and RareAuto-inflammatory Syndromes: A Case Report and Literature ReviewSemantic proximity Read ↗

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.Semantic proximity Read ↗

[Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature].Semantic proximity Read ↗

Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.Semantic proximity Read ↗

Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications.Semantic proximity Read ↗

Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).Semantic proximity Read ↗

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