Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.

doi:10.1002/art.39960

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Article

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Feb 2017

Kawasaki Yuri, Oda Hirotsugu, Ito Jun, Niwa Akira, Tanaka Takayuki, Hijikata Atsushi, Seki Ryosuke, Nagahashi Ayako, Osawa Mitsujiro, Asaka Isao, Watanabe Akira, Nishimata Shigeo, Shirai Tsuyoshi, Kawashima Hisashi, Ohara Osamu, Nakahata Tatsutoshi, Nishikomori Ryuta, Heike Toshio, Saito Megumu K

Abstract excerpt

OBJECTIVE: To elucidate the genetic background of a patient with neonatal-onset multisystem inflammatory disease (NOMID) with no NLRP3 mutation. METHODS: A Japanese male child diagnosed as having NOMID was studied. The patient did not have any NLRP3 mutation, even as low-frequency mosaicism. We performed whole-exome sequencing on the patient and his parents. Induced pluripotent stem cells (iPSCs) were established...

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Identifiers

PMID: 27788288
DOI: 10.1002/art.39960

Genes

NLRC4
NLRP3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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