Literature DB >> 27965109

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.

Taco W Kuijpers1, Anton T J Tool2, Ivo van der Bijl2, Martin de Boer2, Michel van Houdt2, Iris M de Cuyper2, Dirk Roos2, Floris van Alphen3, Karin van Leeuwen2, Emma L Cambridge4, Mark J Arends5, Gordon Dougan4, Simon Clare4, Ramiro Ramirez-Solis4, Steven T Pals6, David J Adams4, Alexander B Meijer3, Timo K van den Berg2.   

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Year:  2016        PMID： 27965109     DOI： 10.1016/j.jaci.2016.09.061

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


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  45 in total

1.  An expanding network of cytoskeletal defects.

Authors:  Michael D Keller
Journal:  Blood       Date:  2018-11-29       Impact factor: 22.113

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.  Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Authors:  Raz Somech; Atar Lev; Yu Nee Lee; Amos J Simon; Ortal Barel; Ginette Schiby; Camila Avivi; Iris Barshack; Michele Rhodes; Jiejing Yin; Minshi Wang; Yibin Yang; Jennifer Rhodes; Nufar Marcus; Ben-Zion Garty; Jerry Stein; Ninette Amariglio; Gideon Rechavi; David L Wiest; Yong Zhang
Journal:  J Immunol       Date:  2017-11-10       Impact factor: 5.422

Review 4.  Advances and highlights in primary immunodeficiencies in 2017.

Authors:  Javier Chinen; Morton J Cowan
Journal:  J Allergy Clin Immunol       Date:  2018-08-29       Impact factor: 10.793

5.  T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Authors:  Immacolata Brigida; Matteo Zoccolillo; Maria Pia Cicalese; Laurène Pfajfer; Federica Barzaghi; Serena Scala; Carmen Oleaga-Quintas; Jesus A Álvarez-Álvarez; Lucia Sereni; Stefania Giannelli; Claudia Sartirana; Francesca Dionisio; Luca Pavesi; Marta Benavides-Nieto; Luca Basso-Ricci; Paola Capasso; Benedetta Mazzi; Jeremie Rosain; Nufar Marcus; Yu Nee Lee; Raz Somech; Massimo Degano; Giuseppe Raiola; Roberta Caorsi; Paolo Picco; Marcela Moncada Velez; Joelle Khourieh; Andrés Augusto Arias; Aziz Bousfiha; Thomas Issekutz; Andrew Issekutz; Bertrand Boisson; Kerry Dobbs; Anna Villa; Angelo Lombardo; Benedicte Neven; Despina Moshous; Jean-Laurent Casanova; José Luis Franco; Luigi D Notarangelo; Cristina Scielzo; Stefano Volpi; Loïc Dupré; Jacinta Bustamante; Marco Gattorno; Alessandro Aiuti
Journal:  Blood       Date:  2018-09-25       Impact factor: 22.113

6.  Noncystic Fibrosis Bronchiectasis: Evaluation of an Extensive Diagnostic Protocol in Determining Pediatric Lung Disease Etiology.

Authors:  Nike I Beckeringh; Niels W Rutjes; Joost van Schuppen; Taco W Kuijpers
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2019-12-11       Impact factor: 1.349

7.  A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Authors:  Stefano Volpi; Maria Pia Cicalese; Paul Tuijnenburg; Anton T J Tool; Eloy Cuadrado; Marwan Abu-Halaweh; Hamid Ahanchian; Raed Alzyoud; Zeynep Coban Akdemir; Federica Barzaghi; Alexander Blank; Bertrand Boisson; Cristina Bottino; Immacolata Brigida; Roberta Caorsi; Jean-Laurent Casanova; Sabrina Chiesa; Ivan Kingyue Chinn; Gregor Dückers; Anselm Enders; Hans Christian Erichsen; Lisa R Forbes; Tomasz Gambin; Marco Gattorno; Ehsan Ghayoor Karimiani; Silvia Giliani; Michael S Gold; Eva-Maria Jacobsen; Machiel H Jansen; Jovanka R King; Ronald M Laxer; James R Lupski; Emily Mace; Stefania Marcenaro; Reza Maroofian; Alexander B Meijer; Tim Niehues; Luigi D Notarangelo; Jordan Orange; Ulrich Pannicke; Chris Pearson; Paolo Picco; Patrick J Quinn; Ansgar Schulz; Filiz Seeborg; Asbjørg Stray-Pedersen; Hasan Tawamie; Ester M M van Leeuwen; Alessandro Aiuti; Rae Yeung; Klaus Schwarz; Taco W Kuijpers
Journal:  J Allergy Clin Immunol       Date:  2019-02-13       Impact factor: 10.793

8.  High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.

Authors:  Lucie Abeler-Dörner; Adam G Laing; Anna Lorenc; Dmitry S Ushakov; Simon Clare; Anneliese O Speak; Maria A Duque-Correa; Jacqueline K White; Ramiro Ramirez-Solis; Namita Saran; Katherine R Bull; Belén Morón; Jua Iwasaki; Philippa R Barton; Susana Caetano; Keng I Hng; Emma Cambridge; Simon Forman; Tanya L Crockford; Mark Griffiths; Leanne Kane; Katherine Harcourt; Cordelia Brandt; George Notley; Kolawole O Babalola; Jonathan Warren; Jeremy C Mason; Amrutha Meeniga; Natasha A Karp; David Melvin; Eleanor Cawthorne; Brian Weinrick; Albina Rahim; Sibyl Drissler; Justin Meskas; Alice Yue; Markus Lux; George X Song-Zhao; Anna Chan; Carmen Ballesteros Reviriego; Johannes Abeler; Heather Wilson; Agnieszka Przemska-Kosicka; Matthew Edmans; Natasha Strevens; Markus Pasztorek; Terrence F Meehan; Fiona Powrie; Ryan Brinkman; Gordon Dougan; William Jacobs; Clare M Lloyd; Richard J Cornall; Kevin J Maloy; Richard K Grencis; Gillian M Griffiths; David J Adams; Adrian C Hayday
Journal:  Nat Immunol       Date:  2019-12-16       Impact factor: 25.606

9.  Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.

Authors:  Ina Schim van der Loeff; Evelien G G Sprenkeler; Anton T J Tool; Mario Abinun; Angela Grainger; Karin R Engelhardt; Michel van Houdt; Hans Janssen; Taco W Kuijpers; Sophie Hambleton
Journal:  J Allergy Clin Immunol       Date:  2020-12-03       Impact factor: 10.793

10.  MICAL2 enhances branched actin network disassembly by oxidizing Arp3B-containing Arp2/3 complexes.

Authors:  Chiara Galloni; Davide Carra; Jasmine V G Abella; Svend Kjær; Pavithra Singaravelu; David J Barry; Naoko Kogata; Christophe Guérin; Laurent Blanchoin; Michael Way
Journal:  J Cell Biol       Date:  2021-06-09       Impact factor: 10.539
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