Schnitzler syndrome IgG-kappa variant with MEFV p.(Glu148Gln)

Nicolás-Sánchez FJ, et al.

Actas Dermosifiliogr · 2024

Grade Ccase reportn=1Verified
DOI ↗PubMed ↗

Key Findings

  • ●IgG-kappa variant with heterozygous MEFV p.(Glu148Gln) variant of uncertain significance
  • ●MEFV encodes pyrin, an inflammasome inhibitor

Referenced in (1 disease)

Schnitzler Syndrome

Validation history

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  1. passsource metadataJun 1, 2026, 01:59 PMby pubmed-api

    Matched to a PubMed record by title + author during Issue-3 backfill; PMID and DOI resolved from PubMed E-utilities.

    tools: pubmed.esummary

ID: manual-m-2024-schnitzler-syndrome-iggkappaDOI: 10.1016/j.ad.2024.05.006PMID: 38815681