Literature DB >> 31760094

Dysregulated actin dynamics in activated PI3Kδ syndrome.

Jacqueline G Wallace1, Pedro Zambrano-Rodas2, Wilmer Córdova-Calderón3, Santiago Estrada-Turriate4, Daniel Mendoza-Quispe2, Yesenia Limache Ontiveros5, Raif S Geha6, Janet Chou1, Craig D Platt1.   

Abstract

Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been hypothesized to contribute to the lymphopenia associated with this disease but have not been studied in patients with APDS. We report a patient with APDS who had widespread necrotic skin lesions that were responsive specifically to immunosuppressive therapy. EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  APDS; Actin; PI3Kδ

Mesh：

Substances：

Year:  2019        PMID： 31760094      PMCID： PMC6989370          DOI： 10.1016/j.clim.2019.108311

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


  12 in total

Review 1.  The phosphoinositide 3-kinase pathway.

Authors:  Lewis C Cantley
Journal:  Science       Date:  2002-05-31       Impact factor: 47.728

2.  Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

Authors:  Hassan Abolhassani; Janet Chou; Wayne Bainter; Craig D Platt; Mahmood Tavassoli; Tooba Momen; Marzieh Tavakol; Mohammad Hossein Eslamian; Mohammad Gharagozlou; Masoud Movahedi; Mohsen Ghadami; Amir Ali Hamidieh; Gholamreza Azizi; Reza Yazdani; Mohsen Afarideh; Alireza Ghajar; Arash Havaei; Zahra Chavoshzadeh; Seyed Alireza Mahdaviani; Taher Cheraghi; Nasrin Behniafard; Reza Amin; Soheila Aleyasin; Reza Faridhosseini; Farahzad Jabbari-Azad; Mohammamd Nabavi; Mohammad Hassan Bemanian; Saba Arshi; Rasol Molatefi; Roya Sherkat; Mahboubeh Mansouri; Mehrnaz Mesdaghi; Delara Babaie; Iraj Mohammadzadeh; Javad Ghaffari; Alireza Shafiei; Najmeddin Kalantari; Hamid Ahanchian; Maryam Khoshkhui; Habib Soheili; Abbas Dabbaghzadeh; Afshin Shirkani; Rasoul Nasiri Kalmarzi; Seyed Hamidreza Mortazavi; Javad Tafaroji; Abbas Khalili; Javad Mohammadi; Babak Negahdari; Mohammad-Taghi Joghataei; Basel K Al-Ramadi; Capucine Picard; Nima Parvaneh; Nima Rezaei; Talal A Chatila; Michel J Massaad; Sevgi Keles; Lennart Hammarström; Raif S Geha; Asghar Aghamohammadi
Journal:  J Allergy Clin Immunol       Date:  2017-09-12       Impact factor: 10.793

3.  Role of phosphoinositide 3-kinase regulatory isoforms in development and actin rearrangement.

Authors:  Saskia M Brachmann; Claudine M Yballe; Metello Innocenti; Jonathan A Deane; David A Fruman; Sheila M Thomas; Lewis C Cantley
Journal:  Mol Cell Biol       Date:  2005-04       Impact factor: 4.272

4.  Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

Authors:  Marjolein Wentink; Virgil Dalm; Arjan C Lankester; Pauline A van Schouwenburg; Liesbeth Schölvinck; Tomas Kalina; Radana Zachova; Anna Sediva; Annechien Lambeck; Ingrid Pico-Knijnenburg; Jacques J M van Dongen; Malgorzata Pac; Ewa Bernatowska; Martin van Hagen; Gertjan Driessen; Mirjam van der Burg
Journal:  Clin Immunol       Date:  2017-01-17       Impact factor: 3.969

5.  Jasplakinolide induces apoptosis in various transformed cell lines by a caspase-3-like protease-dependent pathway.

Authors:  C Odaka; M L Sanders; P Crews
Journal:  Clin Diagn Lab Immunol       Date:  2000-11

Review 6.  PI3K pathway defects leading to immunodeficiency and immune dysregulation.

Authors:  Cristiane J Nunes-Santos; Gulbu Uzel; Sergio D Rosenzweig
Journal:  J Allergy Clin Immunol       Date:  2019-05       Impact factor: 10.793

Review 7.  Actin cytoskeletal defects in immunodeficiency.

Authors:  Dale A Moulding; Julien Record; Dessislava Malinova; Adrian J Thrasher
Journal:  Immunol Rev       Date:  2013-11       Impact factor: 12.988

Review 8.  PI3Kδ and primary immunodeficiencies.

Authors:  Carrie L Lucas; Anita Chandra; Sergey Nejentsev; Alison M Condliffe; Klaus Okkenhaug
Journal:  Nat Rev Immunol       Date:  2016-09-12       Impact factor: 53.106

9.  The actin cytoskeleton as a sensor and mediator of apoptosis.

Authors:  Melissa Desouza; Peter W Gunning; Justine R Stehn
Journal:  Bioarchitecture       Date:  2012-05-01

10.  Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Authors:  Tanya I Coulter; Anita Chandra; Chris M Bacon; Judith Babar; James Curtis; Nick Screaton; John R Goodlad; George Farmer; Cathal Laurence Steele; Timothy Ronan Leahy; Rainer Doffinger; Helen Baxendale; Jolanta Bernatoniene; J David M Edgar; Hilary J Longhurst; Stephan Ehl; Carsten Speckmann; Bodo Grimbacher; Anna Sediva; Tomas Milota; Saul N Faust; Anthony P Williams; Grant Hayman; Zeynep Yesim Kucuk; Rosie Hague; Paul French; Richard Brooker; Peter Forsyth; Richard Herriot; Caterina Cancrini; Paolo Palma; Paola Ariganello; Niall Conlon; Conleth Feighery; Patrick J Gavin; Alison Jones; Kohsuke Imai; Mohammad A A Ibrahim; Gašper Markelj; Mario Abinun; Frédéric Rieux-Laucat; Sylvain Latour; Isabelle Pellier; Alain Fischer; Fabien Touzot; Jean-Laurent Casanova; Anne Durandy; Siobhan O Burns; Sinisa Savic; D S Kumararatne; Despina Moshous; Sven Kracker; Bart Vanhaesebroeck; Klaus Okkenhaug; Capucine Picard; Sergey Nejentsev; Alison M Condliffe; Andrew James Cant
Journal:  J Allergy Clin Immunol       Date:  2016-07-16       Impact factor: 10.793
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  1 in total

Review 1.  Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Authors:  Romane Thouenon; Nidia Moreno-Corona; Lucie Poggi; Anne Durandy; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-25       Impact factor: 3.418
  1 in total

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