Associated Papers
PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications.
Jiang P et al.
Journal of Translational Medicine, 2026
Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.
Akoglu G et al.
Clinical Rheumatology, 2025
Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.
Wei S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Characterisation of molecular mechanisms for PLCγ2 disease-linked variants.
Bunney TD et al.
Advances in Biological Regulation, 2024
APLAID complicated with arrhythmogenic dilated cardiomyopathy caused by a novel PLCG2 variant.
Wang T et al.
Immunologic Research, 2024
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K et al.
The Journal of Allergy and Clinical Immunology, 2024
Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.
Li Y et al.
Pediatric Rheumatology Online Journal, 2022
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
Collen LV et al.
Journal of Crohn's & Colitis, 2022
The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration.
Jackson JT et al.
The Journal of Biological Chemistry, 2021
Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review.
Wu N et al.
Frontiers in Immunology, 2021
Phospholipase C families: Common themes and versatility in physiology and pathology.
Katan M et al.
Progress in Lipid Research, 2020
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda A et al.
Journal of Clinical Immunology, 2020
Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient.
Morán-Villaseñor E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder.
Walliser C et al.
Oncotarget, 2018
PLCG2 C2 domain mutations co-occur with BTK and PLCG2 resistance mutations in chronic lymphocytic leukemia undergoing ibrutinib treatment.
Jones D et al.
Leukemia, 2017