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Article

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Feb 2015

Chae Jae Jin, Park Yong Hwan, Park Chung, Hwang Il-Young, Hoffmann Patrycja, Kehrl John H, Aksentijevich Ivona, Kastner Daniel L

Abstract excerpt

OBJECTIVE: We previously reported that p.Ser707Tyr, a novel variant in phospholipase Cγ2 (PLCγ2), is the cause of a dominantly inherited autoinflammatory disease, autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation (APLAID). The hypermorphic mutation enhances PLCγ2 activity and causes an increase in intracellular Ca2+ release from endoplasmic reticulum stores. Because increased...

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Source

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Identifiers

PMID: 25418813
DOI: 10.1002/art.38961
PMCID: PMC4369162

Genes

NLRP3
PLCG2

Variants

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.

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