Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
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
Published in Nature communications (15.07.2019)
Published in Nature communications (15.07.2019)
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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation
Seidel, Markus G., MD, Böhm, Katrin, Cm, Dogu, Figen, MD, Worth, Austen, MD, Thrasher, Adrian, MD, Florkin, Benoit, MD, İkincioğulları, Aydan, MD, Peters, Anke, MD, Bakhtiar, Shahrzad, MD, Meeths, Marie, MD, Stepensky, Polina, MD, Meyts, Isabelle, MD, Sharapova, Svetlana O., MD, Gámez-Díaz, Laura, PhD, Hammarström, Lennart, MD, Ehl, Stephan, MD, Grimbacher, Bodo, MD, Gennery, Andrew R., MD
Published in Journal of allergy and clinical immunology (01.02.2018)
Published in Journal of allergy and clinical immunology (01.02.2018)
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Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity
Meeths, Marie, Chiang, Samuel C.C., Löfstedt, Alexandra, Müller, Martha-Lena, Tesi, Bianca, Henter, Jan-Inge, Bryceson, Yenan T.
Published in Experimental Cell Research (01.07.2014)
Published in Experimental Cell Research (01.07.2014)
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Book Review
Different NK cell–activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
Wood, Stephanie M., Meeths, Marie, Chiang, Samuel C.C., Bechensteen, Anne Grete, Boelens, Jaap J., Heilmann, Carsten, Horiuchi, Hisanori, Rosthøj, Steen, Rutynowska, Olga, Winiarski, Jacek, Stow, Jennifer L., Nordenskjöld, Magnus, Henter, Jan-Inge, Ljunggren, Hans-Gustaf, Bryceson, Yenan T.
Published in Blood (05.11.2009)
Published in Blood (05.11.2009)
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Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
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
Published in Nature communications (02.10.2019)
Published in Nature communications (02.10.2019)
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Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies
Borte, Stephan, MD, Meeths, Marie, MD, PhD, Liebscher, Ines, MD, Krist, Kerstin, Nordenskjöld, Magnus, MD, PhD, Hammarström, Lennart, MD, PhD, von Döbeln, Ulrika, MD, PhD, Henter, Jan-Inge, MD, PhD, Bryceson, Yenan T., PhD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
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Development of classical Hodgkin’s lymphoma in an adult with biallelic STXBP2 mutations
Machaczka, Maciej, Klimkowska, Monika, Chiang, Samuel C C, Meeths, Marie, Müller, Martha-Lena, Gustafsson, Britt, Henter, Jan-Inge, Bryceson, Yenan T
Published in Haematologica (Roma) (01.05.2013)
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Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome
Chan, Chi-Bun, Abe, Michiyo, Hashimoto, Noriyoshi, Hao, Chunhai, Williams, Ifor R, Liu, Xia, Nakao, Shinji, Yamamoto, Akitsugu, Li, Shi-Yong, Hara-Nishimura, Ikuko, Asano, Masahide, Ye, Keqiang
Published in Proceedings of the National Academy of Sciences - PNAS (13.01.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (13.01.2009)
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Cancer risk in relatives of patients with a primary disorder of lymphocyte cytotoxicity: a retrospective cohort study
Löfstedt, Alexandra, Chiang, Samuel C C, Onelöv, Erik, Bryceson, Yenan T, Meeths, Marie, Henter, Jan-Inge
Published in The Lancet. Haematology (01.12.2015)
Published in The Lancet. Haematology (01.12.2015)
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Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3
ENTESARIAN, Miriam, CHIANG, Samuel C. C, SCHLUMS, Heinrich, MEETHS, Marie, CHAN, Mei-Yoke, MYA, Soe-Nwe, SOH, Shui-Yen, NORDENSKJÖLD, Magnus, HENTER, Jan-Inge, BRYCESON, Yenan T
Published in British journal of haematology (01.08.2013)
Published in British journal of haematology (01.08.2013)
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Malignancy-associated hemophagocytic lymphohistiocytosis in Sweden: incidence, clinical characteristics, and survival
Löfstedt, Alexandra, Jädersten, Martin, Meeths, Marie, Henter, Jan-Inge
Published in Blood (18.01.2024)
Published in Blood (18.01.2024)
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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., Seidel, Markus G.
Published in Journal of allergy and clinical immunology (01.05.2020)
Published in Journal of allergy and clinical immunology (01.05.2020)
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Efficacy of moderately dosed etoposide in macrophage activation syndrome - hemophagocytic lymphohistiocytosis (MAS-HLH)
Horne, AnnaCarin, von Bahr Greenwood, Tatiana, Chiang, Samuel C C, Meeths, Marie, Björklund, Caroline, Ekelund, Maria, Erensjö, Peter, Berg, Stefan, Hagelberg, Stefan, Bryceson, Yenan T, Andersson, Ulf, Henter, Jan-Inge
Published in Journal of rheumatology (01.10.2021)
Published in Journal of rheumatology (01.10.2021)
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Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden
Meeths, Marie, Horne, AnnaCarin, Sabel, Magnus, Bryceson, Yenan T., Henter, Jan-Inge
Published in Pediatric blood & cancer (01.02.2015)
Published in Pediatric blood & cancer (01.02.2015)
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A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lympho-histiocytosis and normal pigmentation
Tesi, B, Rascon, J, Chiang, SCC, Burnyte, B, Lofstedt, A, Fasth, A, Heizmann, M, Juozapaite, S, Kiudeliene, R, Kvedaraite, E
Published in Journal of allergy and clinical immunology (01.07.2018)
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Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis
Chiang, Samuel C. C., Covill, Laura E., Tesi, Bianca, Campbell, Tessa M., Schlums, Heinrich, Nejati-Zendegani, Jelve, Mördrup, Karina, Wood, Stephanie, Theorell, Jakob, Sekine, Takuya, Al-Herz, Waleed, Akar, Himmet Haluk, Belen, Fatma Burcu, Chan, Mei Yoke, Devecioglu, Omer, Aksu, Tekin, Ifversen, Marianne, Malinowska, Iwona, Sabel, Magnus, Unal, Ekrem, Unal, Sule, Introne, Wendy J., Krzewski, Konrad, Gilmour, Kimberly C., Ehl, Stephan, Abboud, Miguel R, Aytac, Sevkiye Selin, Bosse, Franziskus Johannes, Choo, Sharon, Drabko, Katarzyna, Onkologii, Klinika, Elfeky, Reem, El-Ghoneimy, Dalia Helmy, Fadoo, Zehra, Greenwood, Tatiana, Gustafsson, Britt, Hagelberg, Stefan, Hasle, Henrik, Hästbacka, Johanna, Jadrešin, Oleg, Jädersten, Martin, Kaya, Zuhre, Lecumberri, Ranon, Marques, Laura, Mushtaq, Naureen, Naqvi, Ahmed, Neves, João Farela, Nunes, Susana, Paucar, Martin, Payne, Jeanette H., Rascon, Jelena, Ruuska, Terhi Susanna, Saribeyoglu, Ebru Tugrul, Sundin, Mikael C., Svedenkrans, Jenny, Świderska, Natalia, Tedgård, Ulf, Tvedt, Tor Henrik, Ünüvar, Ayşegül, Van Laar, Jan A. M., Weitzman, Sheila, Winiarski, Jacek, Yaseen, Muhamma Zohaib, Yildiz, Mehmet, Zantomio, Daniela, Øra, Ingrid, Øverland, Torstein, Ljunggren, Hans-Gustaf, Nordenskjöld, Magnus, Horne, AnnaCarin, Henter, Jan-Inge, Meeths, Marie, Bryceson, Yenan T.
Published in Blood (22.08.2024)
Published in Blood (22.08.2024)
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Haploinsufficiency of UNC13D increases the risk of lymphoma
Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar A., Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan‐Inge, Meeths, Marie
Published in Cancer (01.06.2019)
Published in Cancer (01.06.2019)
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