J. Spegarova
4 Papers
J. Spegarova is an academic researcher. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 2, co-authored 2 publications.
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Papers
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
Florian Gothe,J. Spegarova,Catherine F Hatton,Helen Griffin,Thomas Sargent,Sally A. Cowley,William James,Anna Roppelt,Anna Shcherbina,Fabian Hauck,Hugh Reyburn,C. Duncan,Sophie Hambleton +12 more
TL;DR: In this paper , the authors explored the signaling kinetics and residual transcriptional responses of IFN-stimulated primary cells from individuals with complete loss of one of the signal transducers and activators of transcription 2 (STAT2) or IFN regulatory factor 9 (IRF9).
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Case Report: Severe Acute Pulmonary COVID-19 in a Teenager Post Autologous Hematopoietic Stem Cell Transplant
Fabian J. S. van der Velden,Frederik W. van Delft,Stephen Owens,Judit Llevadias,Michael C McKean,Lindsey Pulford,Yusri Taha,Grace Williamson,Quentin Campbell-Hewson,Sophie Hambleton,Rebecca Payne,Christopher J A Duncan,Catrióna R. Johnston,J. Spegarova,Marieke Emonts +14 more
TL;DR: The case of a teenager with Hodgkin's lymphoma who acquired SARS-CoV-2 on the day of her autologous stem cell transplant and developed acute respiratory distress syndrome is reported, successfully treated with a combination of antivirals, immunomodulation with steroids and biologicals, and ECMO.
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Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Christo Tsilifis,J. Spegarova,Ross Good,Helen Griffin,Karin R. Engelhardt,Sophie Graham,Stephen Hughes,P. D. Arkwright,Sophie Hambleton,Andrew R Gennery +9 more
TL;DR: The phenotype of hypomorphic JAK3 deficiency is expanded and the importance of functional testing of novel variants in disease-causing genes is demonstrated and shown to be hypomorphic.
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NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
Rui Chen,Elena Lukianova,Ina Schim van der Loeff,J. Spegarova,Joseph D. P. Willet,Kieran D. James,Edward Ryder,Helen Griffin,Hanna IJspeert,Akshada Gajbhiye,Frederic Lamoliatte,José Luis Marín-Rubio,Lisa Woodbine,Henrique Lemos,David J. Swan,Valeria Pintar,Kamal Sayes,Elias R. Ruiz-Morales,Simon Eastham,David Dixon,M. Julieta Del Prete,Elena Prigmore,Penny A Jeggo,Joan Boyes,Andrew Mellor,Lei Huang,M. van der Burg,Karin R. Engelhardt,Asbjørg Stray-Pedersen,H. C. Erichsen,Andrew R. Gennery,Matthias Trost,David J. Adams,Graham Anderson,Anna Lorenc,Gosia Trynka,Sophie Hambleton +36 more
TL;DR: NUDCD3 deficiency disrupts V(D)J recombination, causing SCID and OS.