Literature DB >> 30779216

Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.

Stuart G Tangye1,2, Giorgia Bucciol3,4, Jose Casas-Martin3, Bethany Pillay1,2, Cindy S Ma1,2, Leen Moens3, Isabelle Meyts3,4.   

Abstract

Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of the recently described conditions, emphasizing the clinical features as well as the immunophenotype and pathophysiology.
© 2019 Australasian Society for Immunology Inc.

Entities:  

Keywords:  Coronin 1A; DOCK2-DOCK8; RAC2; cytoskeleton; primary immunodeficiency

Mesh：

Substances：

Year:  2019        PMID： 30779216     DOI： 10.1111/imcb.12243

Source DB:  PubMed          Journal:  Immunol Cell Biol        ISSN： 0818-9641            Impact factor:   5.126


  12 in total

Review 1.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

2.  Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Authors:  Bethany A Pillay; Danielle T Avery; Joanne M Smart; Theresa Cole; Sharon Choo; Damien Chan; Paul E Gray; Katie Frith; Richard Mitchell; Tri Giang Phan; Melanie Wong; Dianne E Campbell; Peter Hsu; John B Ziegler; Jane Peake; Frank Alvaro; Capucine Picard; Jacinta Bustamante; Benedicte Neven; Andrew J Cant; Gulbu Uzel; Peter D Arkwright; Jean-Laurent Casanova; Helen C Su; Alexandra F Freeman; Nirali Shah; Dennis D Hickstein; Stuart G Tangye; Cindy S Ma
Journal:  JCI Insight       Date:  2019-04-25

3.  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

Review 4.  Cytopenia in autosomal dominant polycystic kidney disease (ADPKD): merely an association or a disease-related feature with prognostic implications?

Authors:  Pieter Schellekens; Willem Roosens; Bert Bammens; Djalila Mekahli; Isabelle Meyts; Rudi Vennekens
Journal:  Pediatr Nephrol       Date:  2021-01-27       Impact factor: 3.714

5.  Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired Immunodeficiencies.

Authors:  Paul Bastard; Aurélien Galerne; Alain Lefevre-Utile; Coralie Briand; André Baruchel; Philippe Durand; Judith Landman-Parker; Elodie Gouache; Nathalie Boddaert; Despina Moshous; Joel Gaudelus; Robert Cohen; Georges Deschenes; Alain Fischer; Stéphane Blanche; Loïc de Pontual; Bénédicte Neven
Journal:  Front Immunol       Date:  2020-11-05       Impact factor: 7.561

Review 6.  Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies.

Authors:  Loïc Dupré; Kaan Boztug; Laurène Pfajfer
Journal:  Front Cell Dev Biol       Date:  2021-06-24

Review 7.  Higher Incidence of B Cell Malignancies in Primary Immunodeficiencies: A Combination of Intrinsic Genomic Instability and Exocytosis Defects at the Immunological Synapse.

Authors:  Jérôme Mastio; Mezida B Saeed; Hannah Wurzer; Max Krecke; Lisa S Westerberg; Clément Thomas
Journal:  Front Immunol       Date:  2020-11-09       Impact factor: 7.561

8.  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

9.  Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

Authors:  Francesco Rispoli; Erica Valencic; Martina Girardelli; Alessia Pin; Alessandra Tesser; Elisa Piscianz; Valentina Boz; Flavio Faletra; Giovanni Maria Severini; Andrea Taddio; Alberto Tommasini
Journal:  Diagnostics (Basel)       Date:  2021-03-16

10.  Rare Autoinflammatory Diseases.

Authors:  Özge Başaran; Yelda Bilginer; Seza Özen
Journal:  Turk Arch Pediatr       Date:  2022-01
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