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Article

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.

Journal of clinical immunology - 1 Aug 2015

Milner Joshua D

Abstract excerpt

PLCG2 associated antibody deficiency and immune dysregulation (PLAID) is a complex dominantly inherited disease characterized almost universally by cold urticaria, and variably by recurrent bacterial infection, autoimmunty and skin granuloma formation. Several striking phenotypes can emerge from this disease, and the pathophysiology leads to a complex mix of loss and gain of function in cellular signaling. This...

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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: 26206677
DOI: 10.1007/s10875-015-0177-x
PMCID: PMC4575258

Genes

PLCG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.PMID 26206677Read ↗

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.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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A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from Iran.Semantic proximity Read ↗

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

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 ↗

Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review.Semantic proximity Read ↗

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