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Article

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

The Journal of allergy and clinical immunology - 1 Jan 2024

Baysac Kathleen, Sun Guangping, Nakano Hiroto, Schmitz Elizabeth G, Cruz Anthony C, Fisher Charles, Bailey Alexis C, Mace Emily, Milner Joshua D, Ombrello Michael J

Abstract excerpt

BACKGROUND: Pathogenic variants of phospholipase C gamma 2 (PLCG2) cause 2 related forms of autosomal-dominant immune dysregulation (ID), PLCγ2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID). Since describing these conditions, many PLCG2 variants of uncertain significance have been identified by clinical sequencing of patients with diverse features of ID....

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Identifiers

PMID: 37769878
DOI: 10.1016/j.jaci.2023.08.036
PMCID: PMC11337301

Genes

PLCG2

Provenance

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

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