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Austen Worth
Researcher at Great Ormond Street Hospital for Children NHS Foundation Trust
Publications - 97
Citations - 3681
Austen Worth is an academic researcher from Great Ormond Street Hospital for Children NHS Foundation Trust. The author has contributed to research in topics: Transplantation & Hematopoietic stem cell transplantation. The author has an hindex of 30, co-authored 79 publications receiving 2694 citations. Previous affiliations of Austen Worth include John Radcliffe Hospital & University College London.
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Journal ArticleDOI
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
Laura Gámez-Díaz,Dietrich August,Polina Stepensky,Shoshana Revel-Vilk,Markus G. Seidel,Mitsuiki Noriko,Tomohiro Morio,Austen Worth,Jacob Blessing,Frank L. van de Veerdonk,Tobias Feuchtinger,Maria Kanariou,Annette Schmitt-Graeff,Sophie Jung,Suranjith L. Seneviratne,Siobhan O. Burns,Bernd H. Belohradsky,Nima Rezaei,Shahrzad Bakhtiar,Carsten Speckmann,Michael B. Jordan,Bodo Grimbacher,Bodo Grimbacher +22 more
TL;DR: This report describes the largest cohort of patients with LRBA deficiency and offers guidelines for physicians to identify and report the extended phenotype ofLRBA deficiency, supporting appropriate clinical management.
Journal ArticleDOI
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
Federica Barzaghi,Laura C. Amaya Hernandez,Benedicte Neven,Silvia Ricci,Zeynep Yesim Kucuk,Jack J. Bleesing,Zohreh Nademi,Mary Slatter,Erlinda R. Ulloa,Anna Shcherbina,Anna Roppelt,Austen Worth,Juliana Silva,Alessandro Aiuti,Luis Murguia-Favela,Carsten Speckmann,Magda Carneiro-Sampaio,Juliana Folloni Fernandes,Safa Baris,Ahmet Ozen,Elif Karakoc-Aydiner,Ayca Kiykim,Ansgar Schulz,Sandra Steinmann,Lucia Dora Notarangelo,Eleonora Gambineri,Paolo Lionetti,William T. Shearer,Lisa R. Forbes,Caridad Martinez,Despina Moshous,Stéphane Blanche,Alain Fisher,Frank M. Ruemmele,Come Tissandier,Marie Ouachée-Chardin,Frédéric Rieux-Laucat,Marina Cavazzana,Waseem Qasim,Barbarella Lucarelli,Michael H. Albert,Ichiro Kobayashi,Laura C. Alonso,Cristina Díaz de Heredia,Hirokazu Kanegane,Anita Lawitschka,Jong Jin Seo,Marta González-Vicent,Miguel Angel Diaz,Rakesh K. Goyal,Martin Sauer,Akif Yesilipek,Minsoo Kim,Yesim Yilmaz-Demirdag,Monica Bhatia,Julie Khlevner,Erick J. Richmond Padilla,Silvana Martino,Davide Montin,Olaf Neth,Agueda Molinos-Quintana,Justo Valverde-Fernandez,Arnon Broides,Vered Pinsk,Antje Ballauf,Filomeen Haerynck,Victoria Bordon,Catharina Dhooge,Maria Laura Garcia-Lloret,Robbert G. M. Bredius,Krzysztof Kałwak,Elie Haddad,Markus G. Seidel,Gregor Dückers,Sung-Yun Pai,Sung-Yun Pai,Christopher C. Dvorak,Stephan Ehl,Franco Locatelli,Frederick D. Goldman,Andrew R. Gennery,M.J. Cowan,Maria Grazia Roncarolo,Rosa Bacchetta +83 more
TL;DR: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long‐term disease‐free survival, and when performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.
Journal ArticleDOI
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia
Phil Ancliff,Michael P. Blundell,Giles O. Cory,Yolanda Calle,Austen Worth,Helena Kempski,Siobhan O. Burns,Gareth E. Jones,Jo Sinclair,Christine Kinnon,Ian Hann,Rosemary E. Gale,David C. Linch,Adrian J. Thrasher +13 more
TL;DR: In vitro culture of bone marrow progenitors demonstrated a profound reduction in neutrophil production and increased levels of apoptosis, consistent with an intrinsic disturbance of normal myeloid differentiation as the cause of the neutropenia, suggesting a novel cause of myelodysplasia.
Journal ArticleDOI
Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.
TL;DR: A detailed insight is provided into the pathophysiology of lymphocyte apoptosis and how this relates to the variable and complex clinical manifestations of ALPS.
Journal ArticleDOI
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Paul Tuijnenburg,Hana Lango Allen,Hana Lango Allen,Siobhan O. Burns,Daniel Greene,Daniel Greene,Machiel H. Jansen,Emily Staples,Jonathan Stephens,Jonathan Stephens,Keren J. Carss,Keren J. Carss,Daniele Biasci,Helen Baxendale,Moira Thomas,Anita Chandra,Sorena Kiani-Alikhan,Hilary Longhurst,Suranjith L. Seneviratne,Eric Oksenhendler,Ilenia Simeoni,Godelieve J. de Bree,Anton T.J. Tool,Ester M. M. van Leeuwen,Eduard H T M Ebberink,Alexander B. Meijer,Salih Tuna,Salih Tuna,Deborah Whitehorn,Deborah Whitehorn,Matthew A. Brown,Matthew A. Brown,Ernest Turro,Ernest Turro,Adrian J. Thrasher,Kenneth G. C. Smith,James Ed Thaventhiran,Taco W. Kuijpers,Zoe Adhya,Hana Alachkar,Ariharan Anantharachagan,Richard Antrobus,Gururaj Arumugakani,Chiara Bacchelli,Claire Bethune,Shahnaz Bibi,Barbara Boardman,Claire Booth,Michael J. Browning,Mary Brownlie,Siobhan Burns,Hayley Clifford,Nichola Cooper,Sophie Davies,John Dempster,Lisa Devlin,Rainer Doffinger,Elizabeth Drewe,David Edgar,William Egner,Tariq El-Shanawany,Bobby Gaspar,Rohit Ghurye,Kimberley Gilmour,Sarah Goddard,Pavel Gordins,Sofia Grigoriadou,Scott Hackett,Rosie Hague,Lorraine Harper,Grant Hayman,A Herwadkar,Stephen M. Hughes,Aarnoud Huissoon,Stephen Jolles,Julie Jones,Peter Kelleher,Nigel Klein,Taco W. Kuijpers,Dinakantha S. Kumararatne,James Laffan,Sara Lear,Hilary Longhurst,Lorena Lorenzo,Jesmeen Maimaris,Ania Manson,Elizabeth M. McDermott,Hazel Millar,Anoop Mistry,Valerie Morrisson,Sai Murng,Iman Nasir,Sergey Nejentsev,Sadia Noorani,Mark J. Ponsford,Waseem Qasim,Ellen Quinn,Isabella Quinti,Alex G. Richter,Crina Samarghitean,Ravishankar Sargur,Sinisa Savic,Suranjith L. Seneviratne,Carrock Sewall,Fiona Shackley,Hans J. Stauss,Cathal Laurence Steele,James Thaventhiran,Adrian J. Thrasher,Steve Welch,Lisa C. Willcocks,Sarita Workman,Austen Worth,Nigel Yeatman,Patrick F.K. Yong,Sofie Ashford,John Bradley,Debra Fletcher,Tracey Hammerton,Roger James,Nathalie Kingston,Willem H. Ouwehand,Christopher J. Penkett,F. Lucy Raymond,Kathleen Stirrups,Marijke Veltman,Tim Young,Naomi Clements-Brod,John Davis,Eleanor Dewhurst,Marie Erwood,Amy Frary,Rachel Linger,Jennifer M. Martin,Sofia Papadia,Karola Rehnstrom,William J. Astle,Antony P. Attwood,Marta Bleda,Keren J. Carss,Louise C. Daugherty,Sri V V Deevi,Stefan Gräf,Csaba Halmagyi,Matthias Haimel,Fengyuan Hu,Vera Matser,Stuart Meacham,Karyn Megy,Olga Shamardina,Catherine Titterton,Ping Yu,Julie von Ziegenweldt,Abigail Furnell,Rutendo Mapeta,Simon Staines,Paula Rayner-Matthews,Christopher Watt +157 more
TL;DR: It is shown that heterozygous loss‐of‐function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin‐producing B cells.