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Literature DB >> 26206677

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.

Abstract

PLCG2 associated antibody deficiency and immune dysregulation (PLAID) is a complex dominantly inherited disease characterized almost universally by cold urticaria, and variably by recurrent bacterial infection, autoimmunty and skin granuloma formation. Several striking phenotypes can emerge from this disease, and the pathophysiology leads to a complex mix of loss and gain of function in cellular signaling. This review discusses the key phenotypic characteristics and pathophysiologic observations seen in PLAID, and contrasts PLAID to several related disorders in order to best contextualize this fascinating disease.

Entities: Chemical Disease Gene Species

Keywords: Cold urticaria; PLAID syndrome; antibody deficiency; granuloma

Mesh：

Substances：
Antibodies

Year: 2015 PMID： 26206677 PMCID： PMC4575258 DOI： 10.1007/s10875-015-0177-x

Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317

14 in total

1. Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors.

Authors: D Wang; J Feng; R Wen; J C Marine; M Y Sangster; E Parganas; A Hoffmeyer; C W Jackson; J L Cleveland; P J Murray; J N Ihle
Journal: Immunity Date: 2000-07 Impact factor: 31.745

2. Phospholipase C-gamma 2 is a critical signaling mediator for murine NK cell activating receptors.

Authors: Ilaria Tassi; Rachel Presti; Sungjin Kim; Wayne M Yokoyama; Susan Gilfillan; Marco Colonna
Journal: J Immunol Date: 2005-07-15 Impact factor: 5.422

3. Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry.

Authors: Philipp Yu; Rainer Constien; Neil Dear; Matilda Katan; Petra Hanke; Tom D Bunney; Sandra Kunder; Leticia Quintanilla-Martinez; Ulrike Huffstadt; Andreas Schröder; Neil P Jones; Thomas Peters; Helmut Fuchs; Martin Hrabe de Angelis; Michael Nehls; Johannes Grosse; Philipp Wabnitz; Thomas P H Meyer; Kei Yasuda; Matthias Schiemann; Christian Schneider-Fresenius; Wolfgang Jagla; Andreas Russ; Andreas Popp; Michelle Josephs; Andreas Marquardt; Jürgen Laufs; Carolin Schmittwolf; Hermann Wagner; Klaus Pfeffer; Geert C Mudde
Journal: Immunity Date: 2005-04 Impact factor: 31.745

Review 4. Urticaria mimickers in children.

Authors: Anubhav N Mathur; Erin F Mathes
Journal: Dermatol Ther Date: 2013 Nov-Dec Impact factor: 2.851

5. Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

Authors: Oyinade M Aderibigbe; Debra Long Priel; Chyi-Chia Richard Lee; Michael J Ombrello; Vimal H Prajapati; Marilyn G Liang; Jonathan J Lyons; Douglas B Kuhns; Edward W Cowen; Joshua D Milner
Journal: JAMA Dermatol Date: 2015-06 Impact factor: 10.282

6. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Authors: Qing Zhou; Geun-Shik Lee; Jillian Brady; Shrimati Datta; Matilda Katan; Afzal Sheikh; Marta S Martins; Tom D Bunney; Brian H Santich; Susan Moir; Douglas B Kuhns; Debra A Long Priel; Amanda Ombrello; Deborah Stone; Michael J Ombrello; Javed Khan; Joshua D Milner; Daniel L Kastner; Ivona Aksentijevich
Journal: Am J Hum Genet Date: 2012-09-20 Impact factor: 11.025

7. Phospholipase Cgamma2 contributes to light-chain gene activation and receptor editing.

Authors: Li Bai; Yuhong Chen; Yinghong He; Xuezhi Dai; Xueyan Lin; Renren Wen; Demin Wang
Journal: Mol Cell Biol Date: 2007-06-25 Impact factor: 4.272

8. Delayed cold-induced urticaria: a dominantly inherited disorder.

Authors: N A Soter; N P Joshi; F J Twarog; R S Zeiger; P M Rothman; H R Colten
Journal: J Allergy Clin Immunol Date: 1977-04 Impact factor: 10.793

9. The autoinhibitory C-terminal SH2 domain of phospholipase C-γ2 stabilizes B cell receptor signalosome assembly.

Authors: Jing Wang; Haewon Sohn; Guangping Sun; Joshua D Milner; Susan K Pierce
Journal: Sci Signal Date: 2014-09-16 Impact factor: 8.192

10. Structural and functional integration of the PLCγ interaction domains critical for regulatory mechanisms and signaling deregulation.

Authors: Tom D Bunney; Diego Esposito; Corine Mas-Droux; Ekatarina Lamber; Rhona W Baxendale; Marta Martins; Ambrose Cole; Dmitri Svergun; Paul C Driscoll; Matilda Katan
Journal: Structure Date: 2012-10-11 Impact factor: 5.006

22 in total

Review 1. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors: Ivona Aksentijevich; Oskar Schnappauf
Journal: Nat Rev Rheumatol Date: 2021-05-25 Impact factor: 20.543

Review 2. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.

Authors: Peter A Nigrovic; Pui Y Lee; Hal M Hoffman
Journal: J Allergy Clin Immunol Date: 2020-11 Impact factor: 10.793

Review 3. Atopic Dermatitis and Allergic Urticaria: Cutaneous Manifestations of Immunodeficiency.

Authors: Martin Robert Gaudinski; Joshua D Milner
Journal: Immunol Allergy Clin North Am Date: 2016-10-28 Impact factor: 3.479

Review 4. Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.

Authors: Giorgio Costagliola; Diego G Peroni; Rita Consolini
Journal: Front Pediatr Date: 2022-06-10 Impact factor: 3.569

5. Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study.

Authors: Zeinab A El-Sayed; Dalia H El-Ghoneimy; José A Ortega-Martell; Nesrine Radwan; Juan C Aldave; Waleed Al-Herz; Maryam A Al-Nesf; Antonio Condino-Neto; Theresa Cole; Brian Eley; Nahla H H Erwa; Sara Espinosa-Padilla; Emilia Faria; Nelson A Rosario Filho; Ramsay Fuleihan; Nermeen Galal; Elizabeth Garabedian; Mary Hintermeyer; Kohsuke Imai; Carla Irani; Ebtihal Kamal; Nadia Kechout; Adam Klocperk; Michael Levin; Tomas Milota; Monia Ouederni; Roberto Paganelli; Claudio Pignata; Farah N Qamar; Isabella Quinti; Sonia Qureshi; Nita Radhakrishnan; Nima Rezaei; John Routes; Surjit Singh; Sangeetha Siniah; Intisar Abdel-Hakam Taha; Luciana K Tanno; Ben Van Dort; Alla Volokha; Kathleen Sullivan
Journal: World Allergy Organ J Date: 2022-06-17 Impact factor: 5.516

Review 6. The involvement of microglia in Alzheimer's disease: a new dog in the fight.

Authors: Zachery Moore; Juliet M Taylor; Peter J Crack
Journal: Br J Pharmacol Date: 2018-12-18 Impact factor: 8.739

7. Noncatalytic Bruton's tyrosine kinase activates PLCγ₂ variants mediating ibrutinib resistance in human chronic lymphocytic leukemia cells.

Authors: Martin Wist; Laura Meier; Orit Gutman; Jennifer Haas; Sascha Endres; Yuan Zhou; Reinhild Rösler; Sebastian Wiese; Stephan Stilgenbauer; Elias Hobeika; Yoav I Henis; Peter Gierschik; Claudia Walliser
Journal: J Biol Chem Date: 2020-03-17 Impact factor: 5.157

8. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors: Rebecca Sims; Sven J van der Lee; Adam C Naj; Céline Bellenguez; Nandini Badarinarayan; Johanna Jakobsdottir; Brian W Kunkle; Anne Boland; Rachel Raybould; Joshua C Bis; Eden R Martin; Benjamin Grenier-Boley; Stefanie Heilmann-Heimbach; Vincent Chouraki; Amanda B Kuzma; Kristel Sleegers; Maria Vronskaya; Agustin Ruiz; Robert R Graham; Robert Olaso; Per Hoffmann; Megan L Grove; Badri N Vardarajan; Mikko Hiltunen; Markus M Nöthen; Charles C White; Kara L Hamilton-Nelson; Jacques Epelbaum; Wolfgang Maier; Seung-Hoan Choi; Gary W Beecham; Cécile Dulary; Stefan Herms; Albert V Smith; Cory C Funk; Céline Derbois; Andreas J Forstner; Shahzad Ahmad; Hongdong Li; Delphine Bacq; Denise Harold; Claudia L Satizabal; Otto Valladares; Alessio Squassina; Rhodri Thomas; Jennifer A Brody; Liming Qu; Pascual Sánchez-Juan; Taniesha Morgan; Frank J Wolters; Yi Zhao; Florentino Sanchez Garcia; Nicola Denning; Myriam Fornage; John Malamon; Maria Candida Deniz Naranjo; Elisa Majounie; Thomas H Mosley; Beth Dombroski; David Wallon; Michelle K Lupton; Josée Dupuis; Patrice Whitehead; Laura Fratiglioni; Christopher Medway; Xueqiu Jian; Shubhabrata Mukherjee; Lina Keller; Kristelle Brown; Honghuang Lin; Laura B Cantwell; Francesco Panza; Bernadette McGuinness; Sonia Moreno-Grau; Jeremy D Burgess; Vincenzo Solfrizzi; Petra Proitsi; Hieab H Adams; Mariet Allen; Davide Seripa; Pau Pastor; L Adrienne Cupples; Nathan D Price; Didier Hannequin; Ana Frank-García; Daniel Levy; Paramita Chakrabarty; Paolo Caffarra; Ina Giegling; Alexa S Beiser; Vilmantas Giedraitis; Harald Hampel; Melissa E Garcia; Xue Wang; Lars Lannfelt; Patrizia Mecocci; Gudny Eiriksdottir; Paul K Crane; Florence Pasquier; Virginia Boccardi; Isabel Henández; Robert C Barber; Martin Scherer; Lluis Tarraga; Perrie M Adams; Markus Leber; Yuning Chen; Marilyn S Albert; Steffi Riedel-Heller; Valur Emilsson; Duane Beekly; Anne Braae; Reinhold Schmidt; Deborah Blacker; Carlo Masullo; Helena Schmidt; Rachelle S Doody; Gianfranco Spalletta; W T Longstreth; Thomas J Fairchild; Paola Bossù; Oscar L Lopez; Matthew P Frosch; Eleonora Sacchinelli; Bernardino Ghetti; Qiong Yang; Ryan M Huebinger; Frank Jessen; Shuo Li; M Ilyas Kamboh; John Morris; Oscar Sotolongo-Grau; Mindy J Katz; Chris Corcoran; Melanie Dunstan; Amy Braddel; Charlene Thomas; Alun Meggy; Rachel Marshall; Amy Gerrish; Jade Chapman; Miquel Aguilar; Sarah Taylor; Matt Hill; Mònica Díez Fairén; Angela Hodges; Bruno Vellas; Hilkka Soininen; Iwona Kloszewska; Makrina Daniilidou; James Uphill; Yogen Patel; Joseph T Hughes; Jenny Lord; James Turton; Annette M Hartmann; Roberta Cecchetti; Chiara Fenoglio; Maria Serpente; Marina Arcaro; Carlo Caltagirone; Maria Donata Orfei; Antonio Ciaramella; Sabrina Pichler; Manuel Mayhaus; Wei Gu; Alberto Lleó; Juan Fortea; Rafael Blesa; Imelda S Barber; Keeley Brookes; Chiara Cupidi; Raffaele Giovanni Maletta; David Carrell; Sandro Sorbi; Susanne Moebus; Maria Urbano; Alberto Pilotto; Johannes Kornhuber; Paolo Bosco; Stephen Todd; David Craig; Janet Johnston; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Nick C Fox; John Hardy; Roger L Albin; Liana G Apostolova; Steven E Arnold; Sanjay Asthana; Craig S Atwood; Clinton T Baldwin; Lisa L Barnes; Sandra Barral; Thomas G Beach; James T Becker; Eileen H Bigio; Thomas D Bird; Bradley F Boeve; James D Bowen; Adam Boxer; James R Burke; Jeffrey M Burns; Joseph D Buxbaum; Nigel J Cairns; Chuanhai Cao; Chris S Carlson; Cynthia M Carlsson; Regina M Carney; Minerva M Carrasquillo; Steven L Carroll; Carolina Ceballos Diaz; Helena C Chui; David G Clark; David H Cribbs; Elizabeth A Crocco; Charles DeCarli; Malcolm Dick; Ranjan Duara; Denis A Evans; Kelley M Faber; Kenneth B Fallon; David W Fardo; Martin R Farlow; Steven Ferris; Tatiana M Foroud; Douglas R Galasko; Marla Gearing; Daniel H Geschwind; John R Gilbert; Neill R Graff-Radford; Robert C Green; John H Growdon; Ronald L Hamilton; Lindy E Harrell; Lawrence S Honig; Matthew J Huentelman; Christine M Hulette; Bradley T Hyman; Gail P Jarvik; Erin Abner; Lee-Way Jin; Gyungah Jun; Anna Karydas; Jeffrey A Kaye; Ronald Kim; Neil W Kowall; Joel H Kramer; Frank M LaFerla; James J Lah; James B Leverenz; Allan I Levey; Ge Li; Andrew P Lieberman; Kathryn L Lunetta; Constantine G Lyketsos; Daniel C Marson; Frank Martiniuk; Deborah C Mash; Eliezer Masliah; Wayne C McCormick; Susan M McCurry; Andrew N McDavid; Ann C McKee; Marsel Mesulam; Bruce L Miller; Carol A Miller; Joshua W Miller; John C Morris; Jill R Murrell; Amanda J Myers; Sid O'Bryant; John M Olichney; Vernon S Pankratz; Joseph E Parisi; Henry L Paulson; William Perry; Elaine Peskind; Aimee Pierce; Wayne W Poon; Huntington Potter; Joseph F Quinn; Ashok Raj; Murray Raskind; Barry Reisberg; Christiane Reitz; John M Ringman; Erik D Roberson; Ekaterina Rogaeva; Howard J Rosen; Roger N Rosenberg; Mark A Sager; Andrew J Saykin; Julie A Schneider; Lon S Schneider; William W Seeley; Amanda G Smith; Joshua A Sonnen; Salvatore Spina; Robert A Stern; Russell H Swerdlow; Rudolph E Tanzi; Tricia A Thornton-Wells; John Q Trojanowski; Juan C Troncoso; Vivianna M Van Deerlin; Linda J Van Eldik; Harry V Vinters; Jean Paul Vonsattel; Sandra Weintraub; Kathleen A Welsh-Bohmer; Kirk C Wilhelmsen; Jennifer Williamson; Thomas S Wingo; Randall L Woltjer; Clinton B Wright; Chang-En Yu; Lei Yu; Fabienne Garzia; Feroze Golamaully; Gislain Septier; Sebastien Engelborghs; Rik Vandenberghe; Peter P De Deyn; Carmen Muñoz Fernadez; Yoland Aladro Benito; Hakan Thonberg; Charlotte Forsell; Lena Lilius; Anne Kinhult-Stählbom; Lena Kilander; RoseMarie Brundin; Letizia Concari; Seppo Helisalmi; Anne Maria Koivisto; Annakaisa Haapasalo; Vincent Dermecourt; Nathalie Fievet; Olivier Hanon; Carole Dufouil; Alexis Brice; Karen Ritchie; Bruno Dubois; Jayanadra J Himali; C Dirk Keene; JoAnn Tschanz; Annette L Fitzpatrick; Walter A Kukull; Maria Norton; Thor Aspelund; Eric B Larson; Ron Munger; Jerome I Rotter; Richard B Lipton; María J Bullido; Albert Hofman; Thomas J Montine; Eliecer Coto; Eric Boerwinkle; Ronald C Petersen; Victoria Alvarez; Fernando Rivadeneira; Eric M Reiman; Maura Gallo; Christopher J O'Donnell; Joan S Reisch; Amalia Cecilia Bruni; Donald R Royall; Martin Dichgans; Mary Sano; Daniela Galimberti; Peter St George-Hyslop; Elio Scarpini; Debby W Tsuang; Michelangelo Mancuso; Ubaldo Bonuccelli; Ashley R Winslow; Antonio Daniele; Chuang-Kuo Wu; Oliver Peters; Benedetta Nacmias; Matthias Riemenschneider; Reinhard Heun; Carol Brayne; David C Rubinsztein; Jose Bras; Rita Guerreiro; Ammar Al-Chalabi; Christopher E Shaw; John Collinge; David Mann; Magda Tsolaki; Jordi Clarimón; Rebecca Sussams; Simon Lovestone; Michael C O'Donovan; Michael J Owen; Timothy W Behrens; Simon Mead; Alison M Goate; Andre G Uitterlinden; Clive Holmes; Carlos Cruchaga; Martin Ingelsson; David A Bennett; John Powell; Todd E Golde; Caroline Graff; Philip L De Jager; Kevin Morgan; Nilufer Ertekin-Taner; Onofre Combarros; Bruce M Psaty; Peter Passmore; Steven G Younkin; Claudine Berr; Vilmundur Gudnason; Dan Rujescu; Dennis W Dickson; Jean-François Dartigues; Anita L DeStefano; Sara Ortega-Cubero; Hakon Hakonarson; Dominique Campion; Merce Boada; John Keoni Kauwe; Lindsay A Farrer; Christine Van Broeckhoven; M Arfan Ikram; Lesley Jones; Jonathan L Haines; Christophe Tzourio; Lenore J Launer; Valentina Escott-Price; Richard Mayeux; Jean-François Deleuze; Najaf Amin; Peter A Holmans; Margaret A Pericak-Vance; Philippe Amouyel; Cornelia M van Duijn; Alfredo Ramirez; Li-San Wang; Jean-Charles Lambert; Sudha Seshadri; Julie Williams; Gerard D Schellenberg
Journal: Nat Genet Date: 2017-07-17 Impact factor: 41.307

Review 9. Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.

Authors: Hanna Bonnekoh; Monique Butze; Tilmann Kallinich; Naotomo Kambe; Georgios Kokolakis; Karoline Krause
Journal: Acta Derm Venereol Date: 2020-03-25 Impact factor: 3.875

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

Authors: 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
Journal: Oncotarget Date: 2018-09-28