Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Ebun, Omoyinmi"'
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:
Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomas Brdicka, Natasha M. Ruth, David Bennin, Dita Cebecauerova, Hana Malcova, Helen Freeman, Neil Martin, Karel Svojgr, Murray H. Passo, Farzana Bhuyan, Sara Alehashemi, Andre T. Rastegar, Katsiaryna Uss, Lela Kardava, Bernadette Marrero, Iris Duric, Ebun Omoyinmi, Petra Peldova, Chyi-Chia Richard Lee, David E. Kleiner, Colleen M. Hadigan, Stephen M. Hewitt, Stefania Pittaluga, Carmelo Carmona-Rivera, Katherine R. Calvo, Nirali Shah, Miroslava Balascakova, Danielle L. Fink, Radana Kotalova, Zuzana Parackova, Lucie Peterkova, Daniela Kuzilkova, Vit Campr, Lucie Sramkova, Angelique Biancotto, Stephen R. Brooks, Cameron Manes, Eric Meffre, Rebecca L. Harper, Hyesun Kuehn, Mariana J. Kaplan, Paul Brogan, Sergio D. Rosenzweig, Melinda Merchant, Zuoming Deng, Anna Huttenlocher, Susan L. Moir, Douglas B. Kuhns, Manfred Boehm, Karolina Skvarova Kramarzova, Raphaela Goldbach-Mansky
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and i
Externí odkaz:
https://doaj.org/article/ae467ac9fc384475ae6d8259f8ad7971
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:
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:
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:
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 11 (2022)
Background Idiopathic recurrent pericarditis (IRP) is an orphan disease that carries significant morbidity, partly driven by corticosteroid dependence. Innate immune modulators, colchicine and anti‐interleukin‐1 agents, pioneered in monogenic aut
Externí odkaz:
https://doaj.org/article/00cf1fdebe46457a8220df3d186408a1
Autor:
Ying Hong, Marina Casimir, Benjamin C. Houghton, Fang Zhang, Barbara Jensen, Ebun Omoyinmi, Robert Torrance, Charalampia Papadopoulou, Michelle Cummins, Marion Roderick, Adrian J. Thrasher, Paul A. Brogan, Despina Eleftheriou
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease caused by bi-allelic loss-of-function mutations in ADA2. Treatment with anti-TNF is effective for the autoinflammatory and vasculitic components of the disease but doe
Externí odkaz:
https://doaj.org/article/a6c23358d4c647d4a324f1cfe56e4169
Autor:
Barbara Jensen, Rebecca James, Ying Hong, Ebun Omoyinmi, Clarissa Pilkington, Neil J. Sebire, Kevin J. Howell, Paul A. Brogan, Despina Eleftheriou
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 18, Iss 1, Pp 1-11 (2020)
Abstract Background Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contractures are often
Externí odkaz:
https://doaj.org/article/8e4c0d760c174a01a4dcf5caffcd356a