Literature DB >> 31953712

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.

Giorgia Bucciol1,2, Bethany Pillay3,4, Jose Casas-Martin1, Selket Delafontaine1,2, Marijke Proesmans5, Natalie Lorent6, Johan Coolen7, Thomas Tousseyn8, Xavier Bossuyt9,10, Cindy S Ma3,11, Rik Schrijvers12,13, Stuart G Tangye3,4, Leen Moens1, Isabelle Meyts14,15.   

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Year:  2020        PMID： 31953712     DOI： 10.1007/s10875-020-00742-5

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


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  15 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

2.  Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.

Authors:  Masahiko Nishitani-Isa; Kojiro Mukai; Yoshitaka Honda; Hiroshi Nihira; Takayuki Tanaka; Hirofumi Shibata; Kumi Kodama; Eitaro Hiejima; Kazushi Izawa; Yuri Kawasaki; Mitsujiro Osawa; Yu Katata; Sachiko Onodera; Tatsuya Watanabe; Takashi Uchida; Shigeo Kure; Junko Takita; Osamu Ohara; Megumu K Saito; Ryuta Nishikomori; Tomohiko Taguchi; Yoji Sasahara; Takahiro Yasumi
Journal:  J Exp Med       Date:  2022-04-28       Impact factor: 17.579

3.  Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Charlotte Cunningham-Rundles; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Eric Oksenhendler; Capucine Picard; Anne Puel; Jennifer Puck; Mikko R J Seppänen; Raz Somech; Helen C Su; Kathleen E Sullivan; Troy R Torgerson; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2022-06-24       Impact factor: 8.542

4.  RNA binding protein DDX5 directs tuft cell specification and function to regulate microbial repertoire and disease susceptibility in the intestine.

Authors:  Tianyun Long; Nazia Abbasi; Juan E Hernandez; Yuxin Li; Ibrahim M Sayed; Shengyun Ma; Attilio Iemolo; Brian A Yee; Gene W Yeo; Francesca Telese; Pradipta Ghosh; Soumita Das; Wendy Jia Men Huang
Journal:  Gut       Date:  2021-12-01       Impact factor: 31.793

5.  Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.

Authors:  Paul E Gray; Bethany A Pillay; Stuart G Tangye; Jin Yan Yap; William A Figgett; John Reeves; Sarah K Kummerfeld; Jennifer Stoddard; Gulbu Uzel; Huie Jing; Helen C Su; Dianne E Campbell; Anna Sullivan; Leslie Burnett; Jane Peake; Cindy S Ma
Journal:  J Clin Immunol       Date:  2021-10-17       Impact factor: 8.542

6.  The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.

Authors:  Helen C Su; Jordan S Orange
Journal:  J Clin Immunol       Date:  2020-05       Impact factor: 8.317

7.  Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.

Authors:  Paria Kashani; Ashish Marwaha; Stephen Feanny; Vy Hong-Diep Kim; Adelle R Atkinson; Matilde Leon-Ponte; Roberto Mendoza-Londono; Eyal Grunebaum
Journal:  Immunol Res       Date:  2021-01-06       Impact factor: 2.829

Review 8.  Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.

Authors:  Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Lucia Leonardi; Francesco La Torre; Silvia Federici; Stefania Corrente; Bianca Laura Cinicola; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale
Journal:  World Allergy Organ J       Date:  2021-02-22       Impact factor: 4.084

9.  Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.

Authors:  Jeffrey M Verboon; Dilnar Mahmut; Ah Ram Kim; Mitsutoshi Nakamura; Nour J Abdulhay; Satish K Nandakumar; Namrata Gupta; Thomas E Akie; Amy E Geddis; Becky Manes; Meghan E Kapp; Inga Hofmann; Stacey B Gabriel; Daryl E Klein; David A Williams; Haydar A Frangoul; Susan M Parkhurst; Genevieve M Crane; Alan B Cantor; Vijay G Sankaran
Journal:  J Clin Immunol       Date:  2020-04-17       Impact factor: 8.317

10.  NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

Authors:  Carla Noemi Castro; Michelle Rosenzwajg; Raphael Carapito; Mohammad Shahrooei; Martina Konantz; Amjad Khan; Zhichao Miao; Miriam Groß; Thibaud Tranchant; Mirjana Radosavljevic; Nicodème Paul; Tristan Stemmelen; Fabien Pitoiset; Aurélie Hirschler; Benoit Nespola; Anne Molitor; Véronique Rolli; Angélique Pichot; Laura Eva Faletti; Bruno Rinaldi; Sylvie Friant; Mark Mednikov; Hatice Karauzum; M Javad Aman; Christine Carapito; Claudia Lengerke; Vahid Ziaee; Wafaa Eyaid; Stephan Ehl; Fayhan Alroqi; Nima Parvaneh; Seiamak Bahram
Journal:  J Exp Med       Date:  2020-12-07       Impact factor: 14.307
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