Recovery of Bone Marrow Function in VEXAS Syndrome-potential Role for Romiplostim

Autor: Adam Al-Hakim, Alyssa Cull, Joanna Topping, Fatima Nadat, Joanna Milek, Razan Alhefzi, Michael F. McDermott, Roger Owen, Catherine Cargo, James Poulter, David G. Kent, Sinisa Savic, on behalf of the ImmunAID consortium

Publikováno v: HemaSphere, Vol 7, Iss 8, p e934 (2023)

Externí odkaz: https://doaj.org/article/d91f072a395a4835b1c491213ce371f7

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease

Autor: Christopher M. Watson, Fatima Nadat, Sammiya Ahmed, Laura A. Crinnion, Sean O’Riordan, Clive Carter, Sinisa Savic

Publikováno v: Genes & Immunity. 23:66-72

XMEN (X-linked immunodeficiency with magnesium defect) is caused by loss-of-function mutations in MAGT1 which is encoded on the X chromosome. The disorder is characterised by CD4 lymphopenia, severe chronic viral infections and defective T-lymphocyte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7eef28ce89064f4bc7a51c0e0561da5
https://doi.org/10.1038/s41435-022-00166-8

Inherited CD19 deficiency impairs signaling in plasma cells

Autor: Kieran Walker, Anoop Mistry, Christopher M Watson, Fatima Nadat, Laura A Crinnion, Gururaj Arumugakani, David T Bonthron, Clive Carter, Gina M Doody, Sinisa Savic

Background: The human CD19 antigen is expressed throughout B cell ontogeny with the exception of neoplastic plasma cells and a subset of normal plasma cells. CD19 plays a role in propagating signals from the B cell receptor and other receptors such a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::200c47d012f26e0e9cca3ef1a6ed8394
https://doi.org/10.21203/rs.3.rs-1498757/v1

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

Autor: Karen Stals, Sara Cuvertino, Víctor Faundes, Frances Flinter, Lihadh Al-Gazali, Santina Venuto, Vagheesh M. Narasimhan, Laura Southgate, Colin A. Johnson, Eamonn Sheridan, Nisha Nair, Anne Barton, Alice Colyer, Susan J. Kimber, Brian R. Jackson, Adam Stevens, Daniel Weisberg, Natalie Canham, Giuseppe Merla, Gabriella Maria Squeo, Richard C. Trembath, Sally Ann Lynch, Fatima Nadat, Terence Garner, Robert Sellers, Sian Ellard, Muriel Holder-Espinasse, David A. van Heel, Michelle Peckham, Francesca Montanari, Siddharth Banka, Verity L. Hartill, Marco Seri, Jozef Hertecant

Publikováno v: Cuvertino, S, Garner, T, Nair, N, Faundes Gomez, V, Sellers, R, Barton, A, Kimber, S, Banka, S & et al. 2020, ' A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0743-3
Genetics in Medicine

Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb665ed7cd14c5769904b3a899659275
https://doi.org/10.1038/s41436-019-0743-3

Fresh versus frozen PMBC using the SARS CoV-2 T-SPOT.COVID test. Which works best?

Autor: Fatima, Nadat, James, Morbey, Brendan, Clark, Matthew, Welbury Smith, Sunil, Daga, Ahmed, Ahmed, Chenchu, Chimakurthi, Clive, Carter

Publikováno v: Journal of Immunological Methods. 506:113278

With the onset of the SARS-CoV-2 pandemic and subsequent vaccination programme, a need has arisen to check for the development of T lymphocyte immunity against the virus. The SARS CoV-2 T-SPOT.COVID test measures the level of T cell immunity and has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8adf985bd24f045203b43dfcd89f22e
https://doi.org/10.1016/j.jim.2022.113278