Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain

por Acres, Meghan J., Gothe, Florian, Grainger, Angela, Skelton, Andrew J., Swan, David J., Willet, Joseph D.P., Leech, Suzy, Galcheva, Sonya, Iotova, Violeta, Hambleton, Sophie, Engelhardt, Karin R.
Publicado 2019

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2

por Schim van der Loeff, Ina, Sprenkeler, Evelien G.G., Tool, Anton T.J., Abinun, Mario, Grainger, Angela, Engelhardt, Karin R., van Houdt, Michel, Janssen, Hans, Kuijpers, Taco W., Hambleton, Sophie
Publicado 2021

A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis

por Gothe, Florian, Hatton, Catherine F, Truong, Linh, Klimova, Zofia, Kanderova, Veronika, Fejtkova, Martina, Grainger, Angela, Bigley, Venetia, Perthen, Joanna, Mitra, Dipayan, Janda, Ales, Fronkova, Eva, Moravcikova, Dusana, Hambleton, Sophie, Duncan, Christopher J A
Publicado 2020

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)

por Duncan, Christopher J A, Dinnigan, Emma, Theobald, Rachel, Grainger, Angela, Skelton, Andrew J, Hussain, Rafiqul, Willet, Joseph D P, Swan, David J, Coxhead, Jonathan, Thomas, Matthew F, Thomas, Julian, Zamvar, Veena, Slatter, Mary A, Cant, Andrew J, Engelhardt, Karin R, Hambleton, Sophie
Publicado 2018

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

por 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
Publicado 2016