An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

door Singh, Ankur, Garg, Amit, Kapoor, Seema, Khurana, Nita, Entesarian, Miriam, Tesi, Bianca
Gepubliceerd in 2014

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication

door Işık Balcı, Yasemin, Özgürler Akpınar, Funda, Polat, Aziz, Kenar, Fethullah, Tesi, Bianca, Greenwood, Tatiana, Yalçın, Nagihan, Koçyiğit, Ali
Gepubliceerd in Turk J Haematol (2015)

Haploinsufficiency of UNC13D increases the risk of lymphoma

door Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar A., Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan‐Inge, Meeths, Marie
Gepubliceerd in Cancer (2019)

Heterozygous variants in DCC: Beyond congenital mirror movements

door Thams, Sebastian, Islam, Mominul, Lindefeldt, Marie, Nordgren, Ann, Granberg, Tobias, Tesi, Bianca, Barbany, Gisela, Nilsson, Daniel, Paucar, Martin
Gepubliceerd in Neurol Genet (2020)

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients

door Theorell, Jakob, Bileviciute-Ljungar, Indre, Tesi, Bianca, Schlums, Heinrich, Johnsgaard, Mette Sophie, Asadi-Azarbaijani, Babak, Bolle Strand, Elin, Bryceson, Yenan T.
Gepubliceerd in Front Immunol (2017)

Corrigendum: Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients

door Theorell, Jakob, Bileviciute-Ljungar, Indre, Tesi, Bianca, Schlums, Heinrich, Johnsgaard, Mette Sophie, Asadi-Azarbaijani, Babak, Strand, Elin Bolle, Bryceson, Yenan T.
Gepubliceerd in Front Immunol (2019)

Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets

door Galgano, Donatella, Soheili, Tayebeh, Voss, Matthias, Torralba-Raga, Lamberto, Tesi, Bianca, Cichocki, Frank, Andre, Isabelle, Rettig, Jens, Cavazzana, Marina, Bryceson, Yenan
Gepubliceerd in Front Immunol (2020)

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

door Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, Herm, Bettina, Stattin, Eva‐Lena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann
Gepubliceerd in Clin Genet (2019)

ARID5B regulates metabolic programming in human adaptive NK cells

door Cichocki, Frank, Wu, Cheng-Ying, Zhang, Bin, Felices, Martin, Tesi, Bianca, Tuininga, Katie, Dougherty, Phillip, Taras, Emily, Hinderlie, Peter, Blazar, Bruce R., Bryceson, Yenan T., Miller, Jeffrey S.
Gepubliceerd in J Exp Med (2018)

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

door 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.
Gepubliceerd in 2014

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

door 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.
Gepubliceerd in Immunity (2015)

Patients with both Langerhans cell histiocytosis and Crohn’s disease highlight a common role of interleukin‐23

door Kvedaraite, Egle, Lourda, Magda, Han, HongYa, Tesi, Bianca, Mitchell, Jenée, Ideström, Maja, Mouratidou, Natalia, Rassidakis, George, von Bahr Greenwood, Tatiana, Cohen‐Aubart, Fleur, Jädersten, Martin, Åkefeldt, Selma Olsson, Svensson, Mattias, Kannourakis, George, Bryceson, Yenan T., Haroche, Julien, Henter, Jan‐Inge
Gepubliceerd in Acta Paediatr (2020)

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

door Baliakas, Panagiotis, Tesi, Bianca, Wartiovaara-Kautto, Ulla, Stray-Pedersen, Asbjørg, Friis, Lone Smidstrup, Dybedal, Ingunn, Hovland, Randi, Jahnukainen, Kirsi, Raaschou-Jensen, Klas, Ljungman, Per, Rustad, Cecilie F., Lautrup, Charlotte K., Kilpivaara, Outi, Kittang, Astrid Olsnes, Grønbæk, Kirsten, Cammenga, Jörg, Hellström-Lindberg, Eva, Andersen, Mette K.
Gepubliceerd in Hemasphere (2019)

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

door 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.
Gepubliceerd in Front Immunol (2017)

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

door 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.
Gepubliceerd in J Allergy Clin Immunol (2018)

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

door 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.
Gepubliceerd in Blood (2017)

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

door 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.
Gepubliceerd in Genome Med (2015)

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

door Bode, Sebastian FN, Ammann, Sandra, Al-Herz, Waleed, Bataneant, Mihaela, Dvorak, Christopher C, Gehring, Stephan, Gennery, Andrew, Gilmour, Kimberly C, Gonzalez-Granado, Luis I, Groß-Wieltsch, Ute, Ifversen, Marianne, Lingman-Framme, Jenny, Matthes-Martin, Susanne, Mesters, Rolf, Meyts, Isabelle, van Montfrans, Joris M, Schmid, Jana Pachlopnik, Pai, Sung-Yun, Soler-Palacin, Pere, Schuermann, Uta, Schuster, Volker, Seidel, Markus G., Speckmann, Carsten, Stepensky, Polina, Sykora, Karl-Walter, Tesi, Bianca, Vraetz, Thomas, Waruiru, Catherine, Bryceson, Yenan T., Moshous, Despina, Lehmberg, Kai, Jordan, Michael B, Ehl, Stephan
Gepubliceerd in Haematologica (2015)

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

door Serwas, Nina K., Hoeger, Birgit, Ardy, Rico C., Stulz, Sigrun V., Sui, Zhenhua, Memaran, Nima, Meeths, Marie, Krolo, Ana, Yüce Petronczki, Özlem, Pfajfer, Laurène, Hou, Tie Z., Halliday, Neil, Santos-Valente, Elisangela, Kalinichenko, Artem, Kennedy, Alan, Mace, Emily M., Mukherjee, Malini, Tesi, Bianca, Schrempf, Anna, Pickl, Winfried F., Loizou, Joanna I., Kain, Renate, Bidmon-Fliegenschnee, Bettina, Schickel, Jean-Nicolas, Glauzy, Salomé, Huemer, Jakob, Garncarz, Wojciech, Salzer, Elisabeth, Pierides, Iro, Bilic, Ivan, Thiel, Jens, Priftakis, Peter, Banerjee, Pinaki P., Förster-Waldl, Elisabeth, Medgyesi, David, Huber, Wolf-Dietrich, Orange, Jordan S., Meffre, Eric, Sansom, David M., Bryceson, Yenan T., Altman, Amnon, Boztug, Kaan
Gepubliceerd in Nat Commun (2019)

Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

door Serwas, Nina K., Hoeger, Birgit, Ardy, Rico C., Stulz, Sigrun V., Sui, Zhenhua, Memaran, Nima, Meeths, Marie, Krolo, Ana, Petronczki, Özlem Yüce, Pfajfer, Laurène, Hou, Tie Z., Halliday, Neil, Santos-Valente, Elisangela, Kalinichenko, Artem, Kennedy, Alan, Mace, Emily M., Mukherjee, Malini, Tesi, Bianca, Schrempf, Anna, Pickl, Winfried F., Loizou, Joanna I., Kain, Renate, Bidmon-Fliegenschnee, Bettina, Schickel, Jean-Nicolas, Glauzy, Salomé, Huemer, Jakob, Garncarz, Wojciech, Salzer, Elisabeth, Pierides, Iro, Bilic, Ivan, Thiel, Jens, Priftakis, Peter, Banerjee, Pinaki P., Förster-Waldl, Elisabeth, Medgyesi, David, Huber, Wolf-Dietrich, Orange, Jordan S., Meffre, Eric, Sansom, David M., Bryceson, Yenan T., Altman, Amnon, Boztug, Kaan
Gepubliceerd in Nat Commun (2019)