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Article

Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.

The Journal of allergy and clinical immunology - 1 Mar 2025

Chou Sophia R, Bailey Alexis C, Baysac Kathleen, Oler Andrew J, Milner Joshua D, Ombrello Michael J

Abstract excerpt

BACKGROUND: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives and transmits signals from various cell surface receptors in most hematopoietic lineages. Variants of PLCG2 cause PLCγ2-associated immune dysregulation (PLAID), a family of conditions classified by mutational effect. PLAID with cold urticaria (PLAID-CU) is caused by in-frame deletions of PLCG2 that are dominant negative at...

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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: 39667583
DOI: 10.1016/j.jaci.2024.06.025
PMCID: PMC12060186

Genes

PLCG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.PMID 39667583Read ↗

Splice site and<i>de novo</i>mutations can cause mixed dominant negative/gain of function<i>PLCG2</i>-associated immune dysregulation with cold urticaria (CU-PLAID)Semantic proximity Read ↗

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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.Semantic proximity Read ↗

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.Semantic proximity Read ↗

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