Zobrazeno 1 - 10
of 203
pro vyhledávání: '"Despina Eleftheriou"'
Autor:
Elena Giulia Milano, PhD, Kristian Mortensen, PhD, Oliver Tann, MD, Vivek Muthurangu, Andrew M Taylor, MD, Despina Eleftheriou, Paul Brogran, Michael Quail, PhD, MB
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss , Pp 100519- (2024)
Externí odkaz:
https://doaj.org/article/dcffa0baa94145848a9073bc6d0de16c
Autor:
Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, Karen Stals, Wendy D. Jones, Anthony Gait, Vignesh Jayarajan, Wei-Li Di, Neil Sebire, Lea Solman, Malobi Ogboli, Steven B. Welch, Annapurna Sudarsanam, Ian Wacogne, Fiona Price-Kuehne, Barbara Jensen, Paul A. Brogan, Despina Eleftheriou
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
ISG15 deficiency is a rare disease caused by autosomal recessive variants in the ISG15 gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 p
Externí odkaz:
https://doaj.org/article/c36d89f5574143d294b7edb06389dfd6
Autor:
Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAccurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic
Externí odkaz:
https://doaj.org/article/76942faa247e4c1ba731534148725544
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4
Autor:
Samantha Cooray, Fiona Price-Kuehne, Ying Hong, Ebun Omoyinmi, Alice Burleigh, Kimberly C. Gilmour, Bilal Ahmad, Sangdun Choi, Mohammad W. Bahar, Paul Torpiano, Andrey Gagunashvili, Barbara Jensen, Evangelos Bellos, Vanessa Sancho-Shimizu, Jethro A. Herberg, Kshitij Mankad, Atul Kumar, Marios Kaliakatsos, Austen J. J. Worth, Despina Eleftheriou, Elizabeth Whittaker, Paul A. Brogan
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4. IRAK-4 is a serine/threonine kinase with a pivotal role in i
Externí odkaz:
https://doaj.org/article/cc3c5eb230e24ef5b59552b35c80a37b
Autor:
Despina Eleftheriou, Yolanda Collaco Moraes, Cara Purvis, Molly Pursell, Marta Merida Morillas, Robin Kahn, Maria Mossberg, Filip Kucera, Robert Tulloh, Joseph F. Standing, Veronica Swallow, Rachael McCormack, Jethro Herberg, Michael Levin, Mandy Wan, Nigel Klein, Roisin Connon, Ann Sarah Walker, Paul Brogan
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-26 (2023)
Abstract Background Kawasaki disease (KD) is an acute self-limiting inflammatory vasculitis affecting predominantly medium-sized arteries, particularly the coronary arteries. A number of recent studies conducted in different European countries have d
Externí odkaz:
https://doaj.org/article/57f636ccf3b14656ad9a68aa88a4a0dd
Autor:
Fiona Price-Kuehne, Ebun Omoyinmi, Maha Younes, Matthew Edwards, Despina Eleftheriou, Paul Brogan
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by variants in the extracellular microfibril fibrillin (FBN1) gene. Here we report an FBN1 variant in a child with an unusual skin rash mimicking cutaneous vasculitis, a
Externí odkaz:
https://doaj.org/article/8a575e36d92b43c8af2ff14bb413557e
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-4 (2021)
Abstract Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase. Patients with MKD display a variet
Externí odkaz:
https://doaj.org/article/6526b0dfe00b45159b766f0e2519ef01
Autor:
Meredyth G. Ll Wilkinson, Claire T. Deakin, Charalampia Papadopoulou, Despina Eleftheriou, Lucy R. Wedderburn
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-12 (2021)
Abstract Juvenile Idiopathic Inflammatory Myopathies (IIM) are a group of rare diseases that are heterogeneous in terms of pathology that can include proximal muscle weakness, associated skin changes and systemic involvement. Despite options for trea
Externí odkaz:
https://doaj.org/article/c6db7ec23f564c74aa0fb814dd86dde8
Autor:
Dara McCreary, Ebun Omoyinmi, Ying Hong, Barbara Jensen, Alice Burleigh, Fiona Price-Kuehne, Kimberly Gilmour, Despina Eleftheriou, Paul Brogan
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise
Externí odkaz:
https://doaj.org/article/f02e5916e70c4193bae418611b0bddcb
Autor:
Harry Knights, Elizabeth Minas, Faraan Khan, Lindsay Shaw, Muthana Al Obaidi, Kshitij Mankad, Despina Eleftheriou
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)
Abstract Background The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imagi
Externí odkaz:
https://doaj.org/article/64fd7bf878aa476dadaaf137d3422f33