An update on the hyper-IgE syndromes

por Yong, Patrick FK, Freeman, Alexandra F, Engelhardt, Karin R, Holland, Steven, Puck, Jennifer M, Grimbacher, Bodo
Publicado 2012

Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease

por Frede, Natalie, Glocker, Erik-Oliver, Wanders, Jennifer, Engelhardt, Karin R, Kreisel, Wolfgang, Ruemmele, Frank M, Grimbacher, Bodo
Publicado 2014

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

por Schepp, Johanna, Chou, Janet, Skrabl-Baumgartner, Andrea, Arkwright, Peter D., Engelhardt, Karin R., Hambleton, Sophie, Morio, Tomohiro, Röther, Ekkehard, Warnatz, Klaus, Geha, Raif, Grimbacher, Bodo
Publicado 2017

AstuteClinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 ofICOSCauses a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

por Robertson, Nic, Engelhardt, Karin R., Morgan, Neil V., Barge, Dawn, Cant, Andrew J., Hughes, Stephen M., Abinun, Mario, Xu, Yaobo, Koref, Mauro Santibanez, Arkwright, Peter D., Hambleton, Sophie
Publicado 2015

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

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

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

por Dang, Tarana Singh, Willet, Joseph DP, Griffin, Helen R, Morgan, Neil V, O’Boyle, Graeme, Arkwright, Peter D, Hughes, Stephen M, Abinun, Mario, Tee, Louise J, Barge, Dawn, Engelhardt, Karin R, Jackson, Michael, Cant, Andrew J, Maher, Eamonn R, Koref, Mauro Santibanez, Reynard, Louise N, Ali, Simi, Hambleton, Sophie
Publicado 2016

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

por Dang, Tarana Singh, Willet, Joseph D. P., Griffin, Helen R., Morgan, Neil V., O’Boyle, Graeme, Arkwright, Peter D., Hughes, Stephen M., Abinun, Mario, Tee, Louise J., Barge, Dawn, Engelhardt, Karin R., Jackson, Michael, Cant, Andrew J., Maher, Eamonn R., Koref, Mauro Santibanez, Reynard, Louise N., Ali, Simi, Hambleton, Sophie
Publicado 2016

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

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

por Zhang, Zinan, Gothe, Florian, Pennamen, Perrine, James, John R., McDonald, David, Mata, Carlos P., Modis, Yorgo, Alazami, Anas M., Acres, Meghan, Haller, Wolfram, Bowen, Claire, Döffinger, Rainer, Sinclair, Jan, Brothers, Shannon, Zhang, Yu, Matthews, Helen F., Naudion, Sophie, Pelluard, Fanny, Alajlan, Huda, Yamazaki, Yasuhiro, Notarangelo, Luigi D., Thaventhiran, James E., Engelhardt, Karin R., Al-Mousa, Hamoud, Hambleton, Sophie, Rooryck, Caroline, Smith, Kenneth G.C., Lenardo, Michael J.
Publicado 2019

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

por Wang, Lin, Aschenbrenner, Dominik, Zeng, Zhiyang, Cao, Xiya, Mayr, Daniel, Mehta, Meera, Capitani, Melania, Warner, Neil, Pan, Jie, Wang, Liren, Li, Qi, Zuo, Tao, Cohen-Kedar, Sarit, Lu, Jiawei, Ardy, Rico Chandra, Mulder, Daniel J., Dissanayake, Dilan, Peng, Kaiyue, Huang, Zhiheng, Li, Xiaoqin, Wang, Yuesheng, Wang, Xiaobing, Li, Shuchao, Bullers, Samuel, Gammage, Anís N., Warnatz, Klaus, Schiefer, Ana-Iris, Krivan, Gergely, Goda, Vera, Kahr, Walter H.A., Lemaire, Mathieu, Lu, Chien-Yi, Siddiqui, Iram, Surette, Michael G., Kotlarz, Daniel, Engelhardt, Karin R., Griffin, Helen R., Rottapel, Robert, Decaluwe, Hélène, Laxer, Ronald M., Proietti, Michele, Hambleton, Sophie, Elcombe, Suzanne, Guo, Cong-Hui, Grimbacher, Bodo, Dotan, Iris, Ng, Siew C., Freeman, Spencer A., Snapper, Scott B., Klein, Christoph, Boztug, Kaan, Huang, Ying, Li, Dali, Uhlig, Holm H., Muise, Aleixo M.
Publicado 2021