A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
Bryceson, Yenan T., Pende, Daniela, Maul-Pavicic, Andrea, Gilmour, Kimberly C., Ufheil, Heike, Vraetz, Thomas, Chiang, Samuel C., Marcenaro, Stefania, Meazza, Raffaella, Bondzio, Ilka, Walshe, Denise, Janka, Gritta, Lehmberg, Kai, Beutel, Karin, zur Stadt, Udo, Binder, Nadine, Arico, Maurizio, Moretta, Lorenzo, Henter, Jan-Inge, Ehl, Stephan
Published in Blood (22.03.2012)
Published in Blood (22.03.2012)
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A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis
Speckmann, Carsten, MD, Doerken, Sam, MSc, Aiuti, Alessandro, MD, Albert, Michael H., MD, Al-Herz, Waleed, MD, Allende, Luis M., PhD, Scarselli, Alessia, MD, Avcin, Tadej, MD, Perez-Becker, Ruy, MD, Cancrini, Caterina, MD, PhD, Cant, Andrew, MD, PhD, Di Cesare, Silvia, BSc, Finocchi, Andrea, MD, Fischer, Alain, MD, PhD, Gaspar, H. Bobby, MD, PhD, Ghosh, Sujal, MD, Gennery, Andrew, MD, Gilmour, Kimberly, PhD, González-Granado, Luis I., MD, Martinez-Gallo, Monica, PhD, Hambleton, Sophie, MD, PhD, Hauck, Fabian, MD, PhD, Hoenig, Manfred, MD, Moshous, Despina, MD, PhD, Neven, Benedicte, MD, Niehues, Tim, MD, Notarangelo, Luigi, MD, Picard, Capucine, MD, PhD, Rieber, Nikolaus, MD, Schulz, Ansgar, MD, Schwarz, Klaus, MD, Seidel, Markus G., MD, Soler-Palacin, Pere, MD, Stepensky, Polina, MD, Strahm, Brigitte, MD, Vraetz, Thomas, MD, Warnatz, Klaus, MD, Winterhalter, Christine, Worth, Austen, MD, Fuchs, Sebastian, PhD, Uhlmann, Annette, Dr rer nat, Ehl, Stephan, MD
Published in Journal of allergy and clinical immunology (01.04.2017)
Published in Journal of allergy and clinical immunology (01.04.2017)
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Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies
Nagy, Magdolna, Mastenbroek, Tom G, Mattheij, Nadine J A, de Witt, Susanne, Clemetson, Kenneth J, Kirschner, Janbernd, Schulz, Ansgar S, Vraetz, Thomas, Speckmann, Carsten, Braun, Attila, Cosemans, Judith M E M, Zieger, Barbara, Heemskerk, Johan W M
Published in Haematologica (Roma) (01.03.2018)
Published in Haematologica (Roma) (01.03.2018)
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Hemophagocytic Lymphohistiocytosis in Imported Pediatric Visceral Leishmaniasis in a Nonendemic Area
Bode, Sebastian F.N., MD, Bogdan, Christian, MD, Beutel, Karin, MD, Behnisch, Wolfgang, MD, Greiner, Jeanette, MD, Henning, Stephan, MD, Jorch, Norbert, MD, Jankofsky, Martin, MD, Jakob, Marcus, MD, Schmid, Irene, MD, Veelken, Norbert, MD, PhD, Vraetz, Thomas, MD, Janka, Gritta, MD, Ehl, Stephan, MD, Lehmberg, Kai, MD
Published in The Journal of pediatrics (01.07.2014)
Published in The Journal of pediatrics (01.07.2014)
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Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation
Klemann, Christian, MD, Ammann, Sandra, PhD, Heizmann, Miriam, Fuchs, Sebastian, PhD, Bode, Sebastian F., MD, Heeg, Maximilian, MD, Fuchs, Hans, MD, Lehmberg, Kai, MD, zur Stadt, Udo, MD, Roll, Claudia, MD, Vraetz, Thomas, MD, Speckmann, Carsten, MD, Lorenz, Myriam Ricarda, PhD, Schwarz, Klaus, MD, Rohr, Jan, MD, Feske, Stefan, MD, Ehl, Stephan, MD
Published in Journal of allergy and clinical immunology (01.12.2017)
Published in Journal of allergy and clinical immunology (01.12.2017)
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Journal Article
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases
ROHR, Jan, BEUTEL, Karin, WOESSMANN, Wilhelm, GROLL, Andreas H, STRAHM, Brigitte, PAGEL, Julia, SPECKMANN, Carsten, JANKA, Gritta, GRIFFITHS, Gillian, SCHWARZ, Klaus, ZUR STADT, Udo, EHL, Stephan, MAUL-PAVICIC, Andrea, VRAETZ, Thomas, THIEL, Jens, WARNATZ, Klaus, BONDZIO, Ilka, GROSS-WIELTSCH, Ute, SCHÜNDELN, Michael, SCHÜTZ, Barbara
Published in Haematologica (Roma) (01.12.2010)
Published in Haematologica (Roma) (01.12.2010)
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Prolonged KI polyomavirus infection in immunodeficient child
Falcone, Valeria, Panning, Marcus, Strahm, Brigitte, Vraetz, Thomas, Bierbaum, Sibylle, Neumann-Haefelin, Dieter, Huzly, Daniela
Published in Emerging infectious diseases (01.04.2012)
Published in Emerging infectious diseases (01.04.2012)
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Journal Article
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
Lian, Jayson, Cuk, Mario, Kahlfuss, Sascha, Kozhaya, Lina, Vaeth, Martin, Rieux-Laucat, Frédéric, Picard, Capucine, Benson, Melina J., Jakovcevic, Antonia, Bilic, Karmen, Martinac, Iva, Stathopulos, Peter, Kacskovics, Imre, Vraetz, Thomas, Speckmann, Carsten, Ehl, Stephan, Issekutz, Thomas, Unutmaz, Derya, Feske, Stefan
Published in Journal of allergy and clinical immunology (01.10.2018)
Published in Journal of allergy and clinical immunology (01.10.2018)
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Journal Article
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine
Published in Blood (21.09.2017)
Published in Blood (21.09.2017)
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Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency
Fuchs, Sebastian, Rensing-Ehl, Anne, Speckmann, Carsten, Bengsch, Bertram, Schmitt-Graeff, Annette, Bondzio, Ilka, Maul-Pavicic, Andrea, Bass, Thilo, Vraetz, Thomas, Strahm, Brigitte, Ankermann, Tobias, Benson, Melina, Caliebe, Almuth, Fölster-Holst, Regina, Kaiser, Petra, Thimme, Robert, Schamel, Wolfgang W, Schwarz, Klaus, Feske, Stefan, Ehl, Stephan
Published in The Journal of immunology (1950) (01.02.2012)
Published in The Journal of immunology (1950) (01.02.2012)
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The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
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, Pachlopnik Schmid, Jana, 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
Published in Haematologica (Roma) (01.07.2015)
Published in Haematologica (Roma) (01.07.2015)
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Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency
Klemann, Christian, Pannicke, Ulrich, Morris-Rosendahl, Deborah J, Vlantis, Katerina, Rizzi, Marta, Uhlig, Holm, Vraetz, Thomas, Speckmann, Carsten, Strahm, Brigitte, Pasparakis, Manolis, Schwarz, Klaus, Ehl, Stephan, Rohr, Jan C
Published in Clinical immunology (Orlando, Fla.) (01.03.2016)
Published in Clinical immunology (Orlando, Fla.) (01.03.2016)
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Journal Article
Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
Sandrock, Kirstin, Nakamura, Lea, Vraetz, Thomas, Beutel, Karin, Ehl, Stephan, Zieger, Barbara
Published in Blood (23.12.2010)
Published in Blood (23.12.2010)
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Journal Article
ORAI1 mutations abolishing store-operated Ca 2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
Lian, Jayson, Cuk, Mario, Kahlfuss, Sascha, Kozhaya, Lina, Vaeth, Martin, Rieux-Laucat, Frédéric, Picard, Capucine, Benson, Melina J, Jakovcevic, Antonia, Bilic, Karmen, Martinac, Iva, Stathopulos, Peter, Kacskovics, Imre, Vraetz, Thomas, Speckmann, Carsten, Ehl, Stephan, Issekutz, Thomas, Unutmaz, Derya, Feske, Stefan
Published in Journal of allergy and clinical immunology (01.10.2018)
Published in Journal of allergy and clinical immunology (01.10.2018)
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Journal Article
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency
Fuchs, Sebastian, Rensing-Ehl, Anne, Pannicke, Ulrich, Lorenz, Myriam R., Fisch, Paul, Jeelall, Yogesh, Rohr, Jan, Speckmann, Carsten, Vraetz, Thomas, Farmand, Susan, Schmitt-Graeff, Annette, Krüger, Marcus, Strahm, Brigitte, Henneke, Philipp, Enders, Anselm, Horikawa, Keisuke, Goodnow, Christopher, Schwarz, Klaus, Ehl, Stephan
Published in Blood (01.10.2015)
Published in Blood (01.10.2015)
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Patients with T+/low NK+ IL‐2 receptor γ chain deficiency have differentially‐impaired cytokine signaling resulting in severe combined immunodeficiency
Fuchs, Sebastian, Rensing‐Ehl, Anne, Erlacher, Miriam, Vraetz, Thomas, Hartjes, Lara, Janda, Ales, Rizzi, Marta, Lorenz, Myriam R., Gilmour, Kimberly, Saint‐Basile, Geneviève, Roifman, Chaim M., Cheuk, Steven, Gennery, Andrew, Thrasher, Adrian J., Fuchs, Ilka, Schwarz, Klaus, Speckmann, Carsten, Ehl, Stephan
Published in European journal of immunology (01.10.2014)
Published in European journal of immunology (01.10.2014)
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Clinical Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation
Baris, Safa, Schulze, Ilka, Ozen, Ahmet, Aydiner, Elif Karakoc, Altuncu, Emel, Karasu, Gulsun Tezcan, Ozturk, Nilufer, Lorenz, Myriam, Schwarz, Klaus, Vraetz, Thomas, Ehl, Stephan, Barlan, Isil B.
Published in Journal of clinical immunology (01.08.2014)
Published in Journal of clinical immunology (01.08.2014)
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Journal Article
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome
Jessen, Birthe, Maul-Pavicic, Andrea, Ufheil, Heike, Vraetz, Thomas, Enders, Anselm, Lehmberg, Kai, Längler, Alfred, Gross-Wieltsch, Ute, Bay, Ali, Kaya, Zuhre, Bryceson, Yenan T., Koscielniak, Ewa, Badawy, Sherif, Davies, Graham, Hufnagel, Markus, Schmitt-Graeff, Annette, Aichele, Peter, zur Stadt, Udo, Schwarz, Klaus, Ehl, Stephan
Published in Blood (27.10.2011)
Published in Blood (27.10.2011)
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SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling
Hauck, Fabian, Blumenthal, Britta, Fuchs, Sebastian, Lenoir, Christelle, Martin, Emmanuel, Speckmann, Carsten, Vraetz, Thomas, Mannhardt-Laakmann, Wilma, Lambert, Nathalie, Gil, Marine, Borte, Stephan, Audrain, Marie, Schwarz, Klaus, Lim, Annick, Schamel, Wolfgang W, Fischer, Alain, Ehl, Stephan, Rensing-Ehl, Anne, Picard, Capucine, Latour, Sylvain
Published in Clinical immunology (Orlando, Fla.) (01.12.2015)
Published in Clinical immunology (Orlando, Fla.) (01.12.2015)
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