Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis by Fiona Price-Kuehne, Ebun Omoyinmi, Maha Younes, Matthew Edwards, Despina Eleftheriou, Despina Eleftheriou, Paul Brogan, Paul Brogan

Get full text

A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours by Dara McCreary, Ebun Omoyinmi, Ebun Omoyinmi, Ying Hong, Barbara Jensen, Alice Burleigh, Alice Burleigh, Fiona Price-Kuehne, Kimberly Gilmour, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou, Paul Brogan, Paul Brogan

Get full text

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition by Alice Burleigh, Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, 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, Paul A. Brogan, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou

Get full text

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4 by Samantha Cooray, Fiona Price-Kuehne, Ying Hong, Ebun Omoyinmi, Alice Burleigh, Alice Burleigh, Kimberly C. Gilmour, Bilal Ahmad, Sangdun Choi, Mohammad W. Bahar, Paul Torpiano, Andrey Gagunashvili, Barbara Jensen, Evangelos Bellos, Evangelos Bellos, Vanessa Sancho-Shimizu, Vanessa Sancho-Shimizu, Jethro A. Herberg, Jethro A. Herberg, Kshitij Mankad, Atul Kumar, Marios Kaliakatsos, Austen J. J. Worth, Despina Eleftheriou, Elizabeth Whittaker, Elizabeth Whittaker, Paul A. Brogan

Get full text