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

In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Journal of clinical immunology - 1 Feb 2013

Kubota Kazuo, Ohnishi Hidenori, Teramoto Takahide, Matsui Eiko, Murase Kana, Kanoh Hiroyuki, Kato Zenichiro, Kaneko Hideo, Seishima Mariko, Kondo Naomi

Abstract excerpt

PURPOSE: Hereditary periodic fever syndromes have been considered monogenic diseases. However, some recent reports have described patients with co-existence of recurrent fever responsible genes. This study assessed whether a rare variant, found in Japanese children showing atypical autoinflammato...

Read the complete abstract on PubMed

Topics

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

Share to Exanthema
Share to Hereditary Autoinflammatory Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inflammation Mediators

Share to Leukocytes, Mononuclear

Share to Monocytes

Share to NF-kappa B

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Source

Identifiers

PMID: 23015306
DOI: 10.1007/s10875-012-9805-x

Genes

NLRP3
MEFV
MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23015306-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.PMID 23015306Read ↗

The Relationship between NALP3 and Autoinflammatory SyndromesSemantic proximity Read ↗

Clinical phenotypes and genetic analyses for diagnosis of systemic autoinflammatory diseases in adult patients with unexplained fever.Semantic proximity Read ↗

Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics.Semantic proximity Read ↗

Familial autoinflammatory diseases: genetics, pathogenesis and treatmentSemantic proximity Read ↗

NLRP1 inflammasome drives IL-18 in Familial Mediterranean Fever and MEFV variantsSemantic proximity Read ↗

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.Semantic proximity Read ↗

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.Semantic proximity Read ↗

Clinical heterogeneity of NLRP12-associated autoinflammatory diseasesSemantic proximity Read ↗

Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseasesSemantic proximity Read ↗

The autoinflammatory syndromes.Semantic proximity Read ↗

Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.Semantic proximity Read ↗

Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.Semantic proximity Read ↗

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