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Article

A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met.

Clinical journal of gastroenterology - 1 Jun 2026

Komatsu Yo, Oizumi Tomofumi, Yanai Shun-Ichi, Kobayashi Yumiko, Nishio Shin-Ya, Usami Shin-Ichi, Matsumoto Takayuki

Abstract excerpt

A 24-year-old female patient with a 4-year history of recurrent abdominal pain, diarrhea, periodic fever and elevated C-reactive protein was referred to our institution. Colonoscopy, esophago-gastro-duodenoscopy, capsule endoscopy and contrast-enhanced CT showed no significant findings. Because she and her mother had sensorineural hearing loss, a diagnosis of cryopyrin-associated periodic syndrome was suspected....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41843397
DOI: 10.1007/s12328-026-02293-5
PMCID: PMC13219222

Genes

NLRP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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