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

Por Singh, Ankur, Garg, Amit, Kapoor, Seema, Khurana, Nita, Entesarian, Miriam, Tesi, Bianca
Publicado em 2014

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

Por Işık Balcı, Yasemin, Özgürler Akpınar, Funda, Polat, Aziz, Kenar, Fethullah, Tesi, Bianca, Greenwood, Tatiana, Yalçın, Nagihan, Koçyiğit, Ali
Publicado no Turk J Haematol (2015)

Haploinsufficiency of UNC13D increases the risk of lymphoma

Por Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar A., Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan‐Inge, Meeths, Marie
Publicado no Cancer (2019)

Heterozygous variants in DCC: Beyond congenital mirror movements

Por Thams, Sebastian, Islam, Mominul, Lindefeldt, Marie, Nordgren, Ann, Granberg, Tobias, Tesi, Bianca, Barbany, Gisela, Nilsson, Daniel, Paucar, Martin
Publicado no Neurol Genet (2020)

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

Por Theorell, Jakob, Bileviciute-Ljungar, Indre, Tesi, Bianca, Schlums, Heinrich, Johnsgaard, Mette Sophie, Asadi-Azarbaijani, Babak, Bolle Strand, Elin, Bryceson, Yenan T.
Publicado no Front Immunol (2017)

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

Por Theorell, Jakob, Bileviciute-Ljungar, Indre, Tesi, Bianca, Schlums, Heinrich, Johnsgaard, Mette Sophie, Asadi-Azarbaijani, Babak, Strand, Elin Bolle, Bryceson, Yenan T.
Publicado no Front Immunol (2019)

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

Por Galgano, Donatella, Soheili, Tayebeh, Voss, Matthias, Torralba-Raga, Lamberto, Tesi, Bianca, Cichocki, Frank, Andre, Isabelle, Rettig, Jens, Cavazzana, Marina, Bryceson, Yenan
Publicado no Front Immunol (2020)

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

Por 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
Publicado no Clin Genet (2019)

ARID5B regulates metabolic programming in human adaptive NK cells

Por 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.
Publicado no J Exp Med (2018)

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)

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

Por 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
Publicado no Acta Paediatr (2020)

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

Por 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.
Publicado no Hemasphere (2019)

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)

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 no J Allergy Clin Immunol (2018)

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)

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

Por 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
Publicado no Haematologica (2015)

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

Por 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
Publicado no Nat Commun (2019)

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

Por 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
Publicado no Nat Commun (2019)