PMC Articles for MedGen (Select 766875) - PMC

Select item 113373011.

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

Kathleen Baysac, Guangping Sun, Hiroto Nakano, Elizabeth G. Schmitz, Anthony C. Cruz, Charles Fisher, Alexis C. Bailey, PLCG2-Immune Dysregulation Working Group, Emily Mace, Joshua D. Milner, Michael J. Ombrello

J Allergy Clin Immunol. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: J Allergy Clin Immunol. 2024 Jan; 153(1): 230–242. Published online 2023 Sep 26. doi: 10.1016/j.jaci.2023.08.036

PMCID:: PMC11337301

Abstract Article PDF–1.9M

Select item 106617202.

Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry

Jessica Rojas-Restrepo, Elena Sindram, Simon Zenke, Hanna Haberstroh, Noriko Mitsuiki, Annemarie Gabrysch, Katrin Huebscher, Sara Posadas-Cantera, Máté Krausz, Robin Kobbe, Jan C. Rohr, Bodo Grimbacher, Laura Gámez-Díaz

J Clin Immunol. 2023; 43(8): 2076–2089. Published online 2023 Sep 23. doi: 10.1007/s10875-023-01582-9

Correction in:: J Clin Immunol. 2023; 43(8): 2090.

PMCID:: PMC10661720

Abstract Article PDF–2.4M

Select item 101542313.

G-CSF drives autoinflammation in APLAID

Elisabeth Mulazzani, Klara Kong, Juan I. Aróstegui, Ashley P. Ng, Nishika Ranathunga, Waruni Abeysekera, Alexandra L. Garnham, Sze-Ling Ng, Paul J. Baker, Jacob T. Jackson, John D. Lich, Margaret L. Hibbs, Ian P. Wicks, Cynthia Louis, Seth L. Masters

Nat Immunol. 2023; 24(5): 814–826. Published online 2023 Mar 30. doi: 10.1038/s41590-023-01473-6

PMCID:: PMC10154231

Abstract Article PDF–15M

Select item 100668204.

When to Suspect Inborn errors of Immunity in Epstein-Barr virus-related Lymphoproliferative disorders

Keith A. Sacco, Luigi D. Notarangelo, Ottavia M. Delmonte

Clin Microbiol Infect. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Clin Microbiol Infect. 2023 Apr; 29(4): 457–462. Published online 2022 Oct 6. doi: 10.1016/j.cmi.2022.10.003

PMCID:: PMC10066820

Abstract Article PDF–440K

Select item 99116655.

Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2

Qi Peng, Dong Luo, Yi Yang, Yinghua Zhu, Qingming Luo, Huan Chen, Dapeng Chen, Zhongjun Zhou, Xiaomei Lu

Front Immunol. 2023; 14: 1014150. Published online 2023 Jan 27. doi: 10.3389/fimmu.2023.1014150

PMCID:: PMC9911665

Abstract Article PDF–2.6M

Select item 95752916.

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

Yandie Li, Meiping Yu, Meiping Lu

Pediatr Rheumatol Online J. 2022; 20: 90. Published online 2022 Oct 17. doi: 10.1186/s12969-022-00728-0

PMCID:: PMC9575291

Abstract Article PDF–829K

Select item 93689337.

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review

Tatjana Welzel, Lea Oefelein, Ursula Holzer, Amelie Müller, Benita Menden, Tobias B. Haack, Miriam Groβ, Jasmin B. Kuemmerle-Deschner

J Clin Med. 2022 Aug; 11(15): 4369. Published online 2022 Jul 27. doi: 10.3390/jcm11154369

PMCID:: PMC9368933

Abstract Article PDF–925K

Select item 92479038.

The Treatment of Primary Immune Deficiencies: Lessons Learned and Future Opportunities

Kenneth Paris, Luke A. Wall

Clin Rev Allergy Immunol. 2022 Jul 1 : 1–12. doi: 10.1007/s12016-022-08950-0 [Epub ahead of print]

PMCID:: PMC9247903

Abstract Article PDF–4.6M

Select item 83742289.

Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge

Giorgio Costagliola, Rita Consolini

Clin Exp Immunol. 2021 Sep; 205(3): 288–305. Published online 2021 Jun 20. doi: 10.1111/cei.13620

PMCID:: PMC8374228

Abstract Article PDF–1.3M

Select item 831891110.

The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration

Jacob T. Jackson, Elisabeth Mulazzani, Stephen L. Nutt, Seth L. Masters

J Biol Chem. 2021 Aug; 297(2): 100905. Published online 2021 Jun 19. doi: 10.1016/j.jbc.2021.100905

PMCID:: PMC8318911

Abstract Article PDF–1.5M

Select item 817013611.

Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review

Na Wu, Bingqing Zhang, Tao Wang, Min Shen, Xuejun Zeng

Front Immunol. 2021; 12: 667430. Published online 2021 May 19. doi: 10.3389/fimmu.2021.667430

PMCID:: PMC8170136

Abstract Article PDF–12M

Select item 807727912.

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

Necil Kutukculer, Ezgi Topyildiz, Afig Berdeli, Burcu Guven Bilgin, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Guzide Aksu, Neslihan Edeer Karaca

Clin Case Rep. 2021 Apr; 9(4): 2023–2031. Published online 2021 Mar 2. doi: 10.1002/ccr3.3934

PMCID:: PMC8077279

Abstract Article PDF–468K

Select item 801718313.

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

Deepti Suri, Amit Rawat, Ankur Kumar Jindal, Pandiarajan Vignesh, Anju Gupta, Rakesh Kumar Pilania, Vibhu Joshi, Kanika Arora, Rajni Kumrah, Gummadi Anjani, Amita Aggarwal, Shubha Phadke, Fouzia N. Aboobacker, Biju George, Eunice Sindhuvi Edison, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Abdulwahab Pandrowala, Sagar Bhattad, Swati Kanakia, Marco Gottorno, Isabella Ceccherini, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Michael S. Hershfield, Surjit Singh

Front Immunol. 2021; 12: 630691. Published online 2021 Mar 19. doi: 10.3389/fimmu.2021.630691

PMCID:: PMC8017183

Abstract Article PDF–1.8M

Select item 782250814.

Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

PLoS One. 2021; 16(1): e0245888. Published online 2021 Jan 22. doi: 10.1371/journal.pone.0245888

PMCID:: PMC7822508

Abstract Article PDF–861K

Select item 750587715.

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

Andrea Martín-Nalda, Claudia Fortuny, Lourdes Rey, Tom D. Bunney, Laia Alsina, Ana Esteve-Solé, Daniel Bull, Maria Carmen Anton, María Basagaña, Ferran Casals, Angela Deyá, Marina García-Prat, Ramon Gimeno, Manel Juan, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Anna Mensa-Vilaró, Raquel Rabionet, Nieves Martin-Begue, Francesc Rudilla, Jordi Yagüe, Xavier Estivill, Vicente García-Patos, Ramon M. Pujol, Pere Soler-Palacín, Matilda Katan, Pablo Pelegrín, Roger Colobran, Asun Vicente, Juan I. Arostegui

J Clin Immunol. 2020; 40(7): 987–1000. Published online 2020 Jul 15. doi: 10.1007/s10875-020-00794-7

PMCID:: PMC7505877

Abstract Article PDF–1.9M

Select item 708653816.

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

Taylor Novice, Amina Kariminia, Kate L. Del Bel, Henry Lu, Mehul Sharma, Chinten J. Lim, Jay Read, Mark Vander Lugt, Mark C. Hannibal, David O’Dwyer, Mirie Hosler, Thomas Scharnitz, Jason M Rizzo, Jennifer Zacur, John Priatel, Sayeh Abdossamadi, Alexandra Bohm, Anne Junker, Stuart E. Turvey, Kirk R. Schultz, Jacob Rozmus

J Clin Immunol. 2020; 40(2): 267–276. Published online 2019 Dec 19. doi: 10.1007/s10875-019-00731-3

PMCID:: PMC7086538

Abstract Article PDF–1.3M

Select item 630276817.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev

Front Immunol. 2018; 9: 2863. Published online 2018 Dec 14. doi: 10.3389/fimmu.2018.02863

PMCID:: PMC6302768

Abstract Article PDF–1.4M

Select item 618813218.

Functional characterization of phospholipase C-γ₂ mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder

Claudia Walliser, Martin Wist, Elisabeth Hermkes, Yuan Zhou, Anja Schade, Jennifer Haas, Julia Deinzer, Laurent Désiré, Shawn S.C. Li, Stephan Stilgenbauer, Joshua D. Milner, Peter Gierschik

Oncotarget. 2018 Sep 28; 9(76): 34357–34378. Published online 2018 Sep 28. doi: 10.18632/oncotarget.26173

PMCID:: PMC6188132

Abstract Article PDF–4.7M

Select item 436916219.

Connecting Two Pathways through Ca²⁺ Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic PLCG2 Mutation

Jae J. Chae, Yong H. Park, Chung Park, Il-Young Hwang, Patrycja Hoffmann, John H. Kehrl, Ivona Aksentijevich, Daniel L. Kastner

Arthritis Rheumatol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Arthritis Rheumatol. 2015 Feb; 67(2): 563–567. doi: 10.1002/art.38961

PMCID:: PMC4369162

Abstract Article PDF–653K

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