Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β

por Healy, Lachlan P., Rossi, Gustavo R., Rautela, Jai, Slade, Charlotte A., Huntington, Nicholas D., Winship, Ingrid M., Souza-Fonseca-Guimaraes, Fernando
Publicado 2019

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus

por Ameratunga, Rohan, Koopmans, Wikke, Woon, See-Tarn, Leung, Euphemia, Lehnert, Klaus, Slade, Charlotte A, Tempany, Jessica C, Enders, Anselm, Steele, Richard, Browett, Peter, Hodgkin, Philip D, Bryant, Vanessa L
Publicado 2017

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

por Watson, Leisa Rebecca, Slade, Charlotte A., Ojaimi, Samar, Barnes, Sara, Fedele, Pasquale, Smith, Prudence, Marum, Justine, Lunke, Sebastian, Stark, Zornitza, Hunter, Matthew F., Bryant, Vanessa L., Low, Michael Sze Yuan
Publicado 2018

Case Report: Cytomegalovirus Disease Is an Under-Recognized Contributor to Morbidity and Mortality in Common Variable Immunodeficiency

por Chan, Samantha, Godsell, Jack, Horton, Miles, Farchione, Anthony, Howson, Lauren J., Margetts, Mai, Jin, Celina, Chatelier, Josh, Yong, Michelle, Sasadeusz, Joseph, Douglass, Jo A., Slade, Charlotte A., Bryant, Vanessa L.
Publicado 2022

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults

por Slade, Charlotte A., Bosco, Julian J., Binh Giang, Tran, Kruse, Elizabeth, Stirling, Robert G., Cameron, Paul U., Hore-Lacy, Fiona, Sutherland, Michael F., Barnes, Sara L., Holdsworth, Stephen, Ojaimi, Samar, Unglik, Gary A., De Luca, Joseph, Patel, Mittal, McComish, Jeremy, Spriggs, Kymble, Tran, Yang, Auyeung, Priscilla, Nicholls, Katherine, O’Hehir, Robyn E., Hodgkin, Philip D., Douglass, Jo A., Bryant, Vanessa L., van Zelm, Menno C.
Publicado 2018

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

por Dezfouli, Mahya, Bergström, Sofia, Skattum, Lillemor, Abolhassani, Hassan, Neiman, Maja, Torabi-Rahvar, Monireh, Franco Jarava, Clara, Martin-Nalda, Andrea, Ferrer Balaguer, Juana M., Slade, Charlotte A., Roos, Anja, Fernandez Pereira, Luis M., López-Trascasa, Margarita, Gonzalez-Granado, Luis I., Allende-Martinez, Luis M., Mizuno, Yumi, Yoshida, Yusuke, Friman, Vanda, Lundgren, Åsa, Aghamohammadi, Asghar, Rezaei, Nima, Hernández-Gonzalez, Manuel, von Döbeln, Ulrika, Truedsson, Lennart, Hara, Toshiro, Nonoyama, Shigeaki, Schwenk, Jochen M., Nilsson, Peter, Hammarström, Lennart
Publicado 2020

A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation

por Garnish, Sarah E., Martin, Katherine R., Kauppi, Maria, Jackson, Victoria E., Ambrose, Rebecca, Eng, Vik Ven, Chiou, Shene, Meng, Yanxiang, Frank, Daniel, Tovey Crutchfield, Emma C., Patel, Komal M., Jacobsen, Annette V., Atkin-Smith, Georgia K., Di Rago, Ladina, Doerflinger, Marcel, Horne, Christopher R., Hall, Cathrine, Young, Samuel N., Cook, Matthew, Athanasopoulos, Vicki, Vinuesa, Carola G., Lawlor, Kate E., Wicks, Ian P., Ebert, Gregor, Ng, Ashley P., Slade, Charlotte A., Pearson, Jaclyn S., Samson, André L., Silke, John, Murphy, James M., Hildebrand, Joanne M.
Publicado 2023

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

por Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne
Publicado 2023