Literature DB >> 30654050

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

Vassilios Lougaris1, Janet Chou2, Abdallah Beano2, Jacqueline G Wallace2, Manuela Baronio3, Luisa Gazzurelli3, Tiziana Lorenzini3, Daniele Moratto4, Giovanna Tabellini5, Silvia Parolini5, Michael Seleman2, Kelsey Stafstrom2, Haiming Xu6, Chad Harris6, Raif S Geha7, Alessandro Plebani3.   

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Year:  2019        PMID： 30654050     DOI： 10.1016/j.jaci.2019.01.001

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  10 in total

Review 1.  RHO GTPases: from new partners to complex immune syndromes.

Authors:  Rana El Masri; Jérôme Delon
Journal:  Nat Rev Immunol       Date:  2021-02-05       Impact factor: 53.106

Review 2.  When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Authors:  Evelien G G Sprenkeler; Steven D S Webbers; Taco W Kuijpers
Journal:  J Innate Immun       Date:  2020-08-26       Impact factor: 7.349

3.  Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Authors:  Liang Zhang; Zhi Chen; Wenyan Li; Qiao Liu; Yanping Wang; Xuemei Chen; Zhirui Tian; Qiuyun Yang; Yunfei An; Zhiyong Zhang; Huawei Mao; Xuemei Tang; Ge Lv; Xiaodong Zhao
Journal:  J Clin Immunol       Date:  2022-05-21       Impact factor: 8.542

Review 4.  B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency.

Authors:  Saba Fekrvand; Shaghayegh Khanmohammadi; Hassan Abolhassani; Reza Yazdani
Journal:  Front Immunol       Date:  2022-06-15       Impact factor: 8.786

Review 5.  Recent advances in understanding inherited deficiencies in immunity to infections.

Authors:  Gregory M Constantine; Michail S Lionakis
Journal:  F1000Res       Date:  2020-04-07

6.  A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Authors:  Chantal Lagresle-Peyrou; Aurélien Olichon; Hanem Sadek; Philippe Roche; Claudine Tardy; Cindy Da Silva; Alexandrine Garrigue; Alain Fischer; Despina Moshous; Yves Collette; Capucine Picard; Jean Laurent Casanova; Isabelle André; Marina Cavazzana
Journal:  Haematologica       Date:  2021-02-01       Impact factor: 9.941

Review 7.  Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.

Authors:  Riccardo Papa; Federica Penco; Stefano Volpi; Marco Gattorno
Journal:  Front Immunol       Date:  2021-01-07       Impact factor: 7.561

Review 8.  RhoG's Role in T Cell Activation and Function.

Authors:  Ana Masara Ahmad Mokhtar; Nor Hawani Salikin; Aminah Suhaila Haron; Syafinaz Amin-Nordin; Ilie Fadzilah Hashim; Muaz Mohd Zaini Makhtar; Siti Balqis Zulfigar; Nurul Izza Ismail
Journal:  Front Immunol       Date:  2022-02-25       Impact factor: 7.561

9.  Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Authors:  Marcello Scala; Masashi Nishikawa; Hidenori Ito; Hidenori Tabata; Tayyaba Khan; Andrea Accogli; Laura Davids; Anna Ruiz; Pietro Chiurazzi; Gabriella Cericola; Björn Schulte; Kristin G Monaghan; Amber Begtrup; Annalaura Torella; Michele Pinelli; Anne Sophie Denommé-Pichon; Antonio Vitobello; Caroline Racine; Maria Margherita Mancardi; Courtney Kiss; Andrea Guerin; Wendy Wu; Elisabeth Gabau Vila; Bryan C Mak; Julian A Martinez-Agosto; Michael B Gorin; Bugrahan Duz; Yavuz Bayram; Claudia M B Carvalho; Jaime E Vengoechea; David Chitayat; Tiong Yang Tan; Bert Callewaert; Bernd Kruse; Lynne M Bird; Laurence Faivre; Marcella Zollino; Saskia Biskup; Pasquale Striano; Vincenzo Nigro; Mariasavina Severino; Valeria Capra; Gregory Costain; Koh Ichi Nagata
Journal:  Brain       Date:  2022-09-14       Impact factor: 15.255

10.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Talal Chatila; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Capucine Picard; Jennifer Puck; Troy R Torgerson; Jean-Laurent Casanova; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317
  10 in total

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