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Article

A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in NLRP3 and TNFRSF1A genes.

American journal of medical genetics. Part A - 1 Oct 2024

Kilinc Ozgur Can, Gayibova Konul, Onen Merve Ozkilinc, Onat Umut Inci, Bülbül Alper, Timucin Ahmet Can, Ugurlu Serdal, Turanli Eda Tahir

Abstract excerpt

Tumor necrosis factor type 1A receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated autoinflammatory syndrome (CAPS) are rare monogenic autoinflammatory diseases (AIDs) mainly caused by pathogenic variations in the TNFRSF1A and NLRP3 genes, respectively. Here, we describe a unique patient presenting with symptoms overlapping both TRAPS and CAPS, without known pathogenic variants in the respective...

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Topics

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Share to Cryopyrin-Associated Periodic Syndromes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Hereditary Autoinflammatory Diseases

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Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Receptors, Tumor Necrosis Factor, Type I

Source

Identifiers

PMID: 38766920
DOI: 10.1002/ajmg.a.63715

Genes

NLRP3
TNFRSF1A
CAPS

Variants

Provenance

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

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