Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.
Akoglu G et al.
Clinical Rheumatology, 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
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
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
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
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 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
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda A et al.
Journal of Clinical Immunology, 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
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
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
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.
Neves JF et al.
Frontiers in Immunology, 2018