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Updated: Jun 15, 2025

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
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PLCG2 variants in cherubism.

Jennifer G Chester1, Benjamin Carcamo2, David A Gudis3

  • 1Department of Medicine, Division of Pulmonary, Allergy, and Critical Care, Columbia University, New York, NY.

The Journal of Allergy and Clinical Immunology
|August 28, 2024
PubMed
Summary
This summary is machine-generated.

Gain-of-function variants in PLCG2 may cause cherubism, a condition previously linked to SH3BP2. This discovery expands the understanding of PLAID and suggests bone imaging for affected patients.

Keywords:
PLAIDautoinflammationcherubismimmune dysregulationphospholipase C gamma 2

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Area of Science:

  • Genetics
  • Immunology
  • Pediatric Dentistry

Background:

  • Cherubism is typically caused by SH3BP2 gene variants, leading to facial bone lesions.
  • Gain-of-function (GOF) variants in PLCG2 cause PLAID, a condition with immune dysregulation, but cherubism was not previously reported.
  • The signaling pathway involves SH3BP2, phospholipase C gamma 2 (PLCG2), and osteoclast activity.

Purpose of the Study:

  • To investigate the potential association between GOF PLCG2 variants and cherubism.
  • To determine if PLCG2 variants could be a genetic cause for cherubism in patients negative for SH3BP2 variants.

Main Methods:

  • Review of clinical, laboratory, and genomic data from two cherubism patients.
  • Assessment of primary B-cell receptor-induced calcium flux using flow cytometry.
  • Genetic analysis to identify variants in SH3BP2 and PLCG2.

Main Results:

  • Two patients with cherubism-like lesions lacked SH3BP2 variants but possessed rare GOF PLCG2 variants.
  • Increased B-cell receptor-induced calcium flux was observed in one patient.
  • Patients exhibited variable humoral defects, autoinflammatory rash, and other PLAID-consistent findings.

Conclusions:

  • GOF PLCG2 variants are a likely novel genetic cause of cherubism, particularly in SH3BP2-negative individuals.
  • Expansile bony lesions broaden the known phenotype of autoinflammatory PLAID.
  • Bone imaging should be considered in patients diagnosed with PLAID.