Discover Community Create You

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

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

The British journal of dermatology - 17 Oct 2025

Daskalopoulou Aphrodite, Assrawi Eman, Diab Farah, Louvrier Camille, Samson Maxime, Piterboth William, Cador-Rousseau Berengere, Henno Sébastien, Legendre Marie, Lipsker Dan, Amselem Serge, Karabina Sonia A, Giurgea Irina

Abstract excerpt

BACKGROUND: Chronic urticarial lesions, a common condition of mostly unknown cause, can occur in immune dysregulation disorders such as hypocomplementaemic urticarial vasculitis syndrome (HUVS), neutrophilic urticarial dermatosis (NUD) and systemic autoinflammatory diseases (SAIDs), including Schnitzler syndrome. OBJECTIVES: To identify the molecular basis of nonpruritic chronic urticarial eruptions in four...

Read the complete abstract on PubMed

Topics

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

Share to Cryopyrin-Associated Periodic Syndromes
Share to NLRP3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Mosaicism

Share to NF-kappa B

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Phenotype

Share to Urticaria

Source

Identifiers

PMID: 40493737
DOI: 10.1093/bjd/ljaf220

Genes

NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications.PMID 40493737Read ↗

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

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.Semantic proximity Read ↗

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.Semantic proximity Read ↗

First Description of Late‐Onset Autoinflammatory Disease Due to Somatic NLRC4 MosaicismSemantic proximity Read ↗

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 ↗

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 ↗

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic UrticariaSemantic proximity Read ↗

Low-level NLRP3 somatic mosaicism in adult-onset cryopyrin-associated periodic syndrome misdiagnosed as chronic urticaria.Semantic proximity Read ↗

Clinical Features, Outcomes of Treatments, Inflammasome Function and Longitudinal Clonal Dynamics into<i>NLRP3</i>Mosaicism: Evidence from the Largest Cryopyrin-associated Periodic Syndromes Cohort to DateSemantic proximity Read ↗

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.Semantic proximity Read ↗

Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives.Semantic proximity Read ↗

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraSemantic proximity Read ↗

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