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

[Nakajo-Nishimura syndrome].

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology - 1 Jan 2011

Kanazawa Nobuo, Arima Kazuhiko, Ida Hiroaki, Yoshiura Koh-ichiro, Furukawa Fukumi

Abstract excerpt

Nakajo-Nishimura syndrome (NNS) (MIM256040, ORPHA2615) is a distinct inherited inflammatory and wasting disease, which usually begins in early infancy with a pernio-like rash. The patients develop periodic high fever and nodular erythema-like eruptions, and gradually progress lipomuscular atrophy in the upper body, mainly the face and the upper extremities, to show the characteristic long clubbed fingers with...

Read the complete abstract on PubMed

Topics

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

Share to Ubiquitination
Share to Interleukin-6
Share to Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MAP Kinase Signaling System

Share to Prognosis

Share to Proteasome Endopeptidase Complex

Share to Diagnosis, Differential

Share to Fingers

Source

Identifiers

PMID: 22041427
DOI: 10.2177/jsci.34.388

Genes

PSMB8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Nakajo-Nishimura syndrome].PMID 22041427Read ↗

Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.Semantic proximity Read ↗

A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.Semantic proximity Read ↗

A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.Semantic proximity Read ↗

The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.Semantic proximity Read ↗

Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy.Semantic proximity Read ↗

From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases.Semantic proximity Read ↗

Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.Semantic proximity Read ↗

Neonatal-onset autoinflammation and immunodeficiency caused by heterozygous missense mutation of the proteasome subunit β-type 9Semantic proximity Read ↗

A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndromeSemantic proximity Read ↗

IKK-related genetic diseases: probing NF-κB functions in humans and other matters.Semantic proximity Read ↗

Muckle-Wells syndrome in Chinese patients: a single center case series.Semantic proximity Read ↗

[Familial Mediterranean fever as representative autoinflammatory disease].Semantic proximity Read ↗

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