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
Resistance to targeted therapies in chronic lymphocytic leukemia: Current status and perspectives for clinical and diagnostic practice.
Blombery P et al.
Leukemia, 2025
Resistance mechanisms and approach to chronic lymphocytic leukemia after BTK inhibitor therapy.
Gruessner C et al.
Leukemia & Lymphoma, 2025
Mammalian PI-Phospholipase C Isozymes: Structural and Functional Insights and Roles in Health and Disease.
Hamdi M et al.
Medicina (kaunas, Lithuania), 2025
Phosphoinositide-specific phospholipase C enzymes: Recent advances in a long journey.
Macrae C et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025
The protective PLCγ2-P522R variant mitigates Alzheimer's disease-associated pathologies by enhancing beneficial microglial functions.
Takalo M et al.
Journal of Neuroinflammation, 2025
PLCG2 variants in cherubism.
Chester JG et al.
The Journal of Allergy and Clinical Immunology, 2024
Characterisation of molecular mechanisms for PLCγ2 disease-linked variants.
Bunney TD et al.
Advances in Biological Regulation, 2024
Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.
Yang Z et al.
Arthritis & Rheumatology (hoboken, N.j.), 2024
APLAID complicated with arrhythmogenic dilated cardiomyopathy caused by a novel PLCG2 variant.
Wang T et al.
Immunologic Research, 2024
Cognitively healthy centenarians are genetically protected against Alzheimer's disease.
Tesi N et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function - Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation.
Bull D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Human PLCG2 haploinsufficiency results in a novel NK cell immunodeficiency.
Condino-Neto A
The Journal of Allergy and Clinical Immunology, 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
Resisting the Resistance: Navigating BTK Mutations in Chronic Lymphocytic Leukemia (CLL).
Chirino A et al.
Genes, 2023
Genetic variants of phospholipase C-γ2 alter the phenotype and function of microglia and confer differential risk for Alzheimer's disease.
Tsai AP et al.
Immunity, 2023
Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.
Lyons JJ et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
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
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
Welzel T et al.
Journal of Clinical Medicine, 2022
The Conformational State of the BTK Substrate PLCγ Contributes to Ibrutinib Resistance.
Joseph RE et al.
Journal of Molecular Biology, 2022
Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.
Thompson ER et al.
Blood Advances, 2022
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.
Park HS et al.
European Journal of Medical Genetics, 2022
PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages.
Obst J et al.
Scientific Reports, 2021
The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration.
Jackson JT et al.
The Journal of Biological Chemistry, 2021
Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.
Mahajan R et al.
Clinical and Experimental Dermatology, 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
Resistance Mutations to BTK Inhibitors Originate From the NF-κB but Not From the PI3K-RAS-MAPK Arm of the B Cell Receptor Signaling Pathway.
Smith CIE 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
Genetic and Non-Genetic Mechanisms of Resistance to BCR Signaling Inhibitors in B Cell Malignancies.
Ondrisova L et al.
Frontiers in Oncology, 2020
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda A et al.
Journal of Clinical Immunology, 2020
Alzheimer's-associated PLCγ2 is a signaling node required for both TREM2 function and the inflammatory response in human microglia.
Andreone BJ et al.
Nature Neuroscience, 2020
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
Novice T et al.
Journal of Clinical Immunology, 2020
Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinib.
Gángó A et al.
International Journal of Cancer, 2020
Structural insights and activating mutations in diverse pathologies define mechanisms of deregulation for phospholipase C gamma enzymes.
Liu Y et al.
Ebiomedicine, 2020
Resistance-Associated Mutations in Chronic Lymphocytic Leukemia Patients Treated With Novel Agents.
Sedlarikova L et al.
Frontiers in Oncology, 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
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ et al.
Acta Neuropathologica, 2019
Harnessing Immunoproteostasis to Treat Neurodegenerative Disorders.
Golde TE
Neuron, 2019
Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph.
Magno L et al.
Alzheimer's Research & Therapy, 2019
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.
Conway OJ et al.
Molecular Neurodegeneration, 2018
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
Dynamic Allostery in PLCγ1 and Its Modulation by a Cancer Mutation Revealed by MD Simulation and NMR.
Koss H et al.
Biophysical Journal, 2018
Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.
Szymanski AM et al.
International Immunology, 2018
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L et al.
Science (new York, N.y.), 2018
Are BTK and PLCG2 mutations necessary and sufficient for ibrutinib resistance in chronic lymphocytic leukemia?
Lampson BL et al.
Expert Review of Hematology, 2018