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12 results on '"Luke Droney"'

1. Pulmonary involvement in Anti‐Neutrophil Cytoplasmic Antibody Associated Vasculitis: A single centre case series

Author

Peter T. Bell, Robert Sheehy, Luke Droney, Kerri Prain, Richard Wong, and Gregory J. Keir

Subjects
antineutrophil cytoplasmic antibody, cyclophosphamide, rituximab, vasculitis, Diseases of the respiratory system, RC705-779
Abstract

Abstract Anti‐Neutrophil Cytoplasmic Antibody associated Vasculitides (AAV) comprise a rare group of disorders in which respiratory tract involvement is variable and often severe. The rarity and heterogeneity of AAV makes this a challenging condition to diagnose and manage. In this single‐centre case series of 44 patients with AAV‐associated respiratory disease, we provide an overview of disease manifestations, management aspects and treatment outcomes. Data from this case series highlight the real‐world diagnostic and therapeutic challenges of the AAV respiratory disease spectrum; including uncertainties in the management of fibrosing interstitial lung disease, tracheobronchial stenosis and diffuse alveolar haemorrhage.

Published
2022
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3. Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Author

Tina Nguyen, Anthony Lau, Julia Bier, Kristen C. Cooke, Helen Lenthall, Stephanie Ruiz-Diaz, Danielle T. Avery, Henry Brigden, David Zahra, William A Sewell, Luke Droney, Satoshi Okada, Takaki Asano, Hassan Abolhassani, Zahra Chavoshzadeh, Roshini S. Abraham, Nipunie Rajapakse, Eric W. Klee, Joseph A. Church, Andrew Williams, Melanie Wong, Christoph Burkhart, Gulbu Uzel, David R. Croucher, David E. James, Cindy S. Ma, Robert Brink, Stuart G. Tangye, and Elissa K. Deenick

Subjects
Immunology, Immunology and Allergy
Abstract

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a similar clinical profile to APDS1, caused by heterozygous gain-of-function (GOF) mutations in PIK3CD (encoding the PI3K p110δ catalytic subunit). While several studies have established how PIK3CD GOF leads to immune dysregulation, less is known about how PIK3R1 LOF mutations alter cellular function. By studying a novel CRISPR/Cas9 mouse model and patients’ immune cells, we determined how PIK3R1 LOF alters cellular function. We observed some overlap in cellular defects in APDS1 and APDS2, including decreased intrinsic B cell class switching and defective Tfh cell function. However, we also identified unique APDS2 phenotypes including defective expansion and affinity maturation of Pik3r1 LOF B cells following immunization, and decreased survival of Pik3r1 LOF pups. Further, we observed clear differences in the way Pik3r1 LOF and Pik3cd GOF altered signaling. Together these results demonstrate crucial differences between these two genetic etiologies.

Published
2023
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4. Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway

Author

Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai, Lucy Bizien, Gonca Hancioglu, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman, Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia Delmonte, Gabriele Müller, Bärbel Keller, Julio Orrego, William Alexander Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Connie H Katelaris, Peter Mustillo, Johannes Rädler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Heather Kenney, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphette, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa Bryant, Sophie Trouillet Assant, Luigi D Notarangelo, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim Roifman, Nils Landegren, Mark S Anderson, Jean-Laurent Casanova, and Anne Puel

Abstract

Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to the development of auto-Abs neutralizing type I IFNs, and severe viral diseases.

Published
2023
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10. Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Author

Capucine Picard, Joëlle Khourieh, Jane Peake, Antoine Guérin, Bertrand Boisson, Aziz Bousfiha, Jamila El Baghdadi, David Hum, Takaki Asano, Jean-Laurent Casanova, Andrew Williams, Simon J. Pelham, Stéphanie Boisson-Dupuis, Peng Zhang, Maya Chrabieh, Luke Droney, Wei-Te Lei, Ilham Fadil, Ji Eun Han, András N Spaan, Qian Zhang, Nevin Hatipoğlu, Franck Rapaport, Anne Puel, Tanwir Habib, Nico Marr, Fatih Celmeli, Vivien Béziat, Joseph Mackie, Biman Saikia, Stuart G. Tangye, Laurent Abel, Tayfun Ozcelik, Juan Li, Sudhir Gupta, Luckshman Ganeshanandan, and Özçelik, Tayfun

Subjects
Male, Infectious disease and host defense, Dominant negative, Innate immunity and inflammation, 0302 clinical medicine, Immunology and Allergy, 10. No inequality, STAT3, Child, Frameshift Mutation, Dominance (genetics), Genes, Dominant, Translation reinitiation, Genetics, 0303 health sciences, education.field_of_study, Middle Aged, 3. Good health, Pedigree, Codon, Nonsense, 030220 oncology & carcinogenesis, Child, Preschool, Autosomal dominant hyper-IgE syndrome, Female, Haploinsufficiency, Job Syndrome, Gene isoform, Adult, STAT3 Transcription Factor, Adolescent, Immunology, Population, Innate Immunity and Inflammation, Biology, Article, Infectious Disease and Host Defense, Evolution, Molecular, 03 medical and health sciences, Immunodeficiency, Humans, Family, RNA, Messenger, education, Alleles, 030304 developmental biology, Human disease genetics, Infant, Newborn, Infant, Alternative Splicing, Genetics, Population, HEK293 Cells, Protein Biosynthesis, Mutation, biology.protein, Human Disease Genetics
Abstract

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) are heterozygous for rare STAT3 variants. The mechanism of dominance was recently questioned. The authors show that both in-frame and out-of-frame STAT3 variants underlie AD-HIES by negative dominance and not haploinsufficiency., Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and other STAT3 variants from the general population. Strikingly, all 15 out-of-frame variants were DN via their encoded (1) truncated proteins, (2) neoproteins generated from a translation reinitiation codon, and (3) isoforms from alternative transcripts or a combination thereof. Moreover, 128 of the 135 in-frame variants (95%) were also DN. The patients carrying the seven non-DN STAT3 in-frame variants have not been studied for other genetic etiologies. Finally, none of the variants from the general population tested, including an out-of-frame variant, were DN. Overall, our findings show that heterozygous STAT3 variants, whether in or out of frame, underlie AD-HIES through negative dominance rather than haploinsufficiency., Graphical Abstract

Published
2021

11. Case Presentation of Hyper-IgE Syndrome With Novel Mutation

Author

Michael Lane, David Gillis, Stuart G. Tangye, Luke Droney, Andrew S. Williams, Melanie Wong, and Richard C. W. Wong

Subjects
biology, business.industry, Immunology, biology.protein, Medicine, Case presentation, business, Immunoglobulin E, Novel mutation, Pathology and Forensic Medicine
Published
2019
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12. New immunoassays for anti-HMG-CoA reductase antibodies may lead to incorrect diagnosis in inflammatory myositis

Author

Richard C. W. Wong, David Gillis, and Luke Droney

Subjects
Immunoassay, 030203 arthritis & rheumatology, Myositis, biology, medicine.diagnostic_test, business.industry, Immunoprecipitation, Pharmacology, medicine.disease, Antibodies, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, HMG-CoA reductase, biology.protein, medicine, Humans, Hydroxymethylglutaryl CoA Reductases, Diagnostic Errors, Antibody, business
Published
2017
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