New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies

Autor: Waseem Qasim, Terry Flood, Austen Worth, Persis Amrolia, Robert Chiesa, Giorgio Ottaviano, Stuart Adams, Andrew R. Gennery, Gul Ahsan, Dawn Barge, Mary Slatter, Andrew J. Cant, Kanchan Rao, Kimberly Gilmour, Reem Elfeky, Ravi Shah, Sophie Hambleton, Paul Veys, Mohamed Najib Mohamed Unni, Mario Abinun

Publikováno v: Journal of Allergy and Clinical Immunology. 144:280-293

Background Mismatched stem cell transplantation is associated with a high risk of graft loss, graft-versus-host disease (GvHD), and transplant-related mortality. Alternative graft manipulation strategies have been used over the last 11 years to reduc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a5b90592c88131cb1a48c0fb152bcd
https://doi.org/10.1016/j.jaci.2019.01.030

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Autor: Helen Griffin, Dawn Barge, Louise J. Tee, Mario Abinun, Sophie Hambleton, Mauro Santibanez Koref, Simi Ali, Neil V. Morgan, Andrew J. Cant, Michael Jackson, Peter D. Arkwright, Eamonn R. Maher, Graeme O'Boyle, Tarana Singh Dang, Karin R. Engelhardt, Joseph D. P. Willet, Stephen M. Hughes, Louise N. Reynard

Publikováno v: Journal of Clinical Immunology
Dang, T S, Willet, J D P, Griffin, H R, Morgan, N V, O'Boyle, G, Arkwright, P, Hughes, S, Abinun, M, Tee, L J, Barge, D, Engelhardt, K R, Jackson, M, Cant, A J, Maher, E R, Koref, M S, Reynard, L N, Ali, S & Hambleton, S 2016, ' Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency ', Journal of clinical immunology, vol. 36, no. 2, pp. 117-122 . https://doi.org/10.1007/s10875-016-0232-2

PURPOSE\ud \ud To investigate the clinical and functional aspects of MST1 (STK4) deficiency in a profoundly CD4-lymphopenic kindred with a novel homozygous nonsense mutation in STK4. Although recent studies have described the cellular effects of muri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0223ee0143a50ada0ea5028e81b87b03
http://europepmc.org/articles/PMC4769310

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

Autor: Karin R. Engelhardt, Lucy Jenkins, Philipp Agyeman, Terence J. Flood, Mary Slatter, Mario Abinun, Sophie Hambleton, Mila G. C. Germani Batacchi, David J. Swan, Shahnaz Bibi, Angela Grainger, Kimberly Gilmour, Joseph D. P. Willet, Andrew R. Gennery, Mauro Santibanez Koref, Andrew J. Cant, Intan Juliana Abd Hamid, Yaobo Xu, Dawn Barge

Publikováno v: Engelhardt, Karin R; Xu, Yaobo; Grainger, Angela; Germani Batacchi, Mila G C; Swan, David J; Willet, Joseph D P; Abd Hamid, Intan J; Agyeman, Philipp; Barge, Dawn; Bibi, Shahnaz; Jenkins, Lucy; Flood, Terence J; Abinun, Mario; Slatter, Mary A; Gennery, Andrew R; Cant, Andrew J; Santibanez Koref, Mauro; Gilmour, Kimberly; Hambleton, Sophie (2017). Identification of Heterozygous Single-and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of clinical immunology, 37(1), pp. 42-50. Springer 10.1007/s10875-016-0343-9
Journal of Clinical Immunology

Purpose We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db47a8a9a735121a7b45d6564cb1f548
https://boris.unibe.ch/96016/1/EngelhardtXu_JCI2017.pdf

Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

Autor: George Kokai, Julian Verbov, Mario Abinun, Jo McPartland, Chris M. Bacon, Michael Wright, David Bourn, Lisa Strain, L. J. McCann, Andrew Riordan, Eduardo Calonje, Dawn Barge

Publikováno v: Journal of Clinical Immunology

We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c42aa4789df2b0342ebce71728d2b69
http://europepmc.org/articles/PMC7086599

Physicians Oral Abstracts

Autor: Matthew Collin, Jonathan P. Lane, Terry Flood, Andrew J. Cant, Andrew R. Gennery, Sophie Hambleton, Z Nademi, P Tierney, Graham Jackson, Dawn Barge, Mario Abinun, Mary Slatter

Publikováno v: Bone Marrow Transplantation. 47:S1-S87

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5939c9bc79ec3f30abb95251a9c4effc
https://doi.org/10.1038/bmt.2012.36