Development of classical Hodgkin’s lymphoma in an adult with biallelic STXBP2 mutations

Por Machaczka, Maciej, Klimkowska, Monika, Chiang, Samuel C.C., Meeths, Marie, Müller, Martha-Lena, Gustafsson, Britt, Henter, Jan-Inge, Bryceson, Yenan T.
Publicado em 2013

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

Por Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Publicado no Genes (Basel) (2016)

Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency

Por Cichocki, Frank, Schlums, Heinrich, Li, Hongchuan, Stache, Vanessa, Holmes, Timothy, Lenvik, Todd R., Chiang, Samuel C.C., Miller, Jeffrey S., Meeths, Marie, Anderson, Stephen K., Bryceson, Yenan T.
Publicado em 2014

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

Por Müller, Martha-Lena, Chiang, Samuel C. C., Meeths, Marie, Tesi, Bianca, Entesarian, Miriam, Nilsson, Daniel, Wood, Stephanie M., Nordenskjöld, Magnus, Henter, Jan-Inge, Naqvi, Ahmed, Bryceson, Yenan T.
Publicado em 2014

Cytomegalovirus Infection Drives Adaptive Epigenetic Diversification of NK Cells with Altered Signaling and Effector Function

Por Schlums, Heinrich, Cichocki, Frank, Tesi, Bianca, Theorell, Jakob, Beziat, Vivien, Holmes, Tim D., Han, Hongya, Chiang, Samuel C.C., Foley, Bree, Mattsson, Kristin, Larsson, Stella, Schaffer, Marie, Malmberg, Karl-Johan, Ljunggren, Hans-Gustaf, Miller, Jeffrey S., Bryceson, Yenan T.
Publicado no Immunity (2015)

CD49a Expression Defines Tissue-Resident CD8(+) T Cells Poised for Cytotoxic Function in Human Skin

Por Cheuk, Stanley, Schlums, Heinrich, Gallais Sérézal, Irène, Martini, Elisa, Chiang, Samuel C., Marquardt, Nicole, Gibbs, Anna, Detlofsson, Ebba, Introini, Andrea, Forkel, Marianne, Höög, Charlotte, Tjernlund, Annelie, Michaëlsson, Jakob, Folkersen, Lasse, Mjösberg, Jenny, Blomqvist, Lennart, Ehrström, Marcus, Ståhle, Mona, Bryceson, Yenan T., Eidsmo, Liv
Publicado no Immunity (2017)

ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis

Por Maul-Pavicic, Andrea, Chiang, Samuel C. C., Rensing-Ehl, Anne, Jessen, Birthe, Fauriat, Cyril, Wood, Stephanie M., Sjöqvist, Sebastian, Hufnagel, Markus, Schulze, Ilka, Bass, Thilo, Schamel, Wolfgang W., Fuchs, Sebastian, Pircher, Hanspeter, McCarl, Christie-Ann, Mikoshiba, Katsuhiko, Schwarz, Klaus, Feske, Stefan, Bryceson, Yenan T., Ehl, Stephan
Publicado em 2011

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients

Por Chiang, Samuel C. C., Wood, Stephanie M., Tesi, Bianca, Akar, Himmet Haluk, Al-Herz, Waleed, Ammann, Sandra, Belen, Fatma Burcu, Caliskan, Umran, Kaya, Zühre, Lehmberg, Kai, Patiroglu, Turkan, Tokgoz, Huseyin, Ünüvar, Ayşegül, Introne, Wendy J., Henter, Jan-Inge, Nordenskjöld, Magnus, Ljunggren, Hans-Gustaf, Meeths, Marie, Ehl, Stephan, Krzewski, Konrad, Bryceson, Yenan T.
Publicado no Front Immunol (2017)

Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells

Por Schlums, Heinrich, Jung, Moonjung, Han, Hongya, Theorell, Jakob, Bigley, Venetia, Chiang, Samuel C. C., Allan, David S. J., Davidson-Moncada, Jan K., Dickinson, Rachel E., Holmes, Tim D., Hsu, Amy P., Townsley, Danielle, Winkler, Thomas, Wang, Weixin, Aukrust, Pål, Nordøy, Ingvild, Calvo, Katherine R., Holland, Steve M., Collin, Matthew, Dunbar, Cynthia E., Bryceson, Yenan T.
Publicado no Blood (2017)

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Por Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C. C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Publicado no Blood (2017)

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Por Tesi, Bianca, Lagerstedt-Robinson, Kristina, Chiang, Samuel C. C., Bdira, Eya Ben, Abboud, Miguel, Belen, Burcu, Devecioglu, Omer, Fadoo, Zehra, Yeoh, Allen E. J., Erichsen, Hans Christian, Möttönen, Merja, Akar, Himmet Haluk, Hästbacka, Johanna, Kaya, Zuhre, Nunes, Susana, Patiroglu, Turkan, Sabel, Magnus, Saribeyoglu, Ebru Tugrul, Tvedt, Tor Henrik, Unal, Ekrem, Unal, Sule, Unuvar, Aysegul, Meeths, Marie, Henter, Jan-Inge, Nordenskjöld, Magnus, Bryceson, Yenan T.
Publicado no Genome Med (2015)