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Article

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

JAMA dermatology - 1 Jun 2015

Aderibigbe Oyinade M, Priel Debra Long, Lee Chyi-Chia Richard, Ombrello Michael J, Prajapati Vimal H, Liang Marilyn G, Lyons Jonathan J, Kuhns Douglas B, Cowen Edward W, Milner Joshua D

Abstract excerpt

IMPORTANCE: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is a newly characterized immunodeficiency syndrome associated with distinct cutaneous features. Awareness of the cutaneous skin findings associated with PLAID may facilitate diagnosis and improve patient care. OBJECTIVES: To characterize the cutaneous manifestations of PLAID and identify potential cellular mechanisms of the disease....

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25760457
DOI: 10.1001/jamadermatol.2014.5641
PMCID: PMC5664155

Genes

PLCG2

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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Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.PMID 25760457Read ↗

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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.Semantic proximity Read ↗

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

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

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.Semantic proximity Read ↗

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