Editorial: Membrane Trafficking in Immunology - How Membrane Transport and Exocytosis Defects Underlie Immunodeficiencies

por Manna, Paul T., Chiang, Samuel C. C., Bryceson, Yenan T., Orange, Jordan S., Ammann, Sandra
Publicado 2021

First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey

por Kesici, Selman, Yılmaz Keskin, Ebru, Chiang, Samuel C.C., Kasapkara, Çiğdem Seher, Sekine, Takuya, Akçaboy, Meltem, Fettah, Ali, Bryceson, Yenan T.
Publicado 2018

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 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 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 2014

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 2017

A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation

por Tesi, Bianca, Rascon, Jelena, Chiang, Samuel C.C., Burnyte, Birute, Löfstedt, Alexandra, Fasth, Anders, Heizmann, Miriam, Juozapaite, Sandra, Kiudeliene, Rosita, Kvedaraite, Egle, Miseviciene, Valdone, Muleviciene, Audrone, Müller, Martha-Lena, Nordenskjöld, Magnus, Matuzeviciene, Reda, Samaitiene, Ruta, Speckmann, Carsten, Stankeviciene, Sigita, Zekas, Vytautas, Voss, Matthias, Ehl, Stephan, Vaiciene-Magistris, Nerija, Henter, Jan-Inge, Meeths, Marie, Bryceson, Yenan T.
Publicado 2018

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 2015