Literature DB >> 30498066

An expanding network of cytoskeletal defects.

Michael D Keller1.   

Abstract

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Year:  2018        PMID： 30498066      PMCID： PMC6265650          DOI： 10.1182/blood-2018-10-878603

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  10 in total

Review 1.  Primary immunodeficiencies due to abnormalities of the actin cytoskeleton.

Authors:  Siobhan O Burns; Anton Zarafov; Adrian J Thrasher
Journal:  Curr Opin Hematol       Date:  2017-01       Impact factor: 3.284

2.  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

3.  Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

Authors:  Majed Dasouki; Kingsley C Okonkwo; Abhishek Ray; Caspian K Folmsbeel; Diana Gozales; Sevgi Keles; Jennifer M Puck; Talal Chatila
Journal:  Clin Immunol       Date:  2011-06-21       Impact factor: 3.969

4.  Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome.

Authors:  T Ariga; T Kondoh; K Yamaguchi; M Yamada; S Sasaki; D L Nelson; H Ikeda; K Kobayashi; H Moriuchi; Y Sakiyama
Journal:  J Immunol       Date:  2001-04-15       Impact factor: 5.422

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.  Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

Authors:  Alessandro Aiuti; Luca Biasco; Samantha Scaramuzza; Francesca Ferrua; Maria Pia Cicalese; Cristina Baricordi; Francesca Dionisio; Andrea Calabria; Stefania Giannelli; Maria Carmina Castiello; Marita Bosticardo; Costanza Evangelio; Andrea Assanelli; Miriam Casiraghi; Sara Di Nunzio; Luciano Callegaro; Claudia Benati; Paolo Rizzardi; Danilo Pellin; Clelia Di Serio; Manfred Schmidt; Christof Von Kalle; Jason Gardner; Nalini Mehta; Victor Neduva; David J Dow; Anne Galy; Roberto Miniero; Andrea Finocchi; Ayse Metin; Pinaki P Banerjee; Jordan S Orange; Stefania Galimberti; Maria Grazia Valsecchi; Alessandra Biffi; Eugenio Montini; Anna Villa; Fabio Ciceri; Maria Grazia Roncarolo; Luigi Naldini
Journal:  Science       Date:  2013-07-11       Impact factor: 47.728

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

Authors:  Taco W Kuijpers; Anton T J Tool; Ivo van der Bijl; Martin de Boer; Michel van Houdt; Iris M de Cuyper; Dirk Roos; Floris van Alphen; Karin van Leeuwen; Emma L Cambridge; Mark J Arends; Gordon Dougan; Simon Clare; Ramiro Ramirez-Solis; Steven T Pals; David J Adams; Alexander B Meijer; Timo K van den Berg
Journal:  J Allergy Clin Immunol       Date:  2016-12-10       Impact factor: 10.793

8.  Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.

Authors:  Nikita S Kolhatkar; Archana Brahmandam; Christopher D Thouvenel; Shirly Becker-Herman; Holly M Jacobs; Marc A Schwartz; Eric J Allenspach; Socheath Khim; Anil K Panigrahi; Eline T Luning Prak; Adrian J Thrasher; Luigi D Notarangelo; Fabio Candotti; Troy R Torgerson; Ignacio Sanz; David J Rawlings
Journal:  J Exp Med       Date:  2015-09-14       Impact factor: 14.307

9.  Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Authors:  Anne-Kathrin Kienzler; Pauline A van Schouwenburg; John Taylor; Ishita Marwah; Richa U Sharma; Charlotte Noakes; Kate Thomson; Ross Sadler; Shelley Segal; Berne Ferry; Jenny C Taylor; Edward Blair; Helen Chapel; Smita Y Patel
Journal:  Clin Immunol       Date:  2015-12-08       Impact factor: 3.969

10.  Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

Authors:  Walter H A Kahr; Fred G Pluthero; Abdul Elkadri; Neil Warner; Marko Drobac; Chang Hua Chen; Richard W Lo; Ling Li; Ren Li; Qi Li; Cornelia Thoeni; Jie Pan; Gabriella Leung; Irene Lara-Corrales; Ryan Murchie; Ernest Cutz; Ronald M Laxer; Julia Upton; Chaim M Roifman; Rae S M Yeung; John H Brumell; Aleixo M Muise
Journal:  Nat Commun       Date:  2017-04-03       Impact factor: 14.919
  10 in total

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