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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Gámez-Díaz, Laura, MSc ; August, Dietrich, cand. MD ; Stepensky, Polina, MD ; Revel-Vilk, Shoshana, MD, MSc ; Seidel, Markus G., MD ; Noriko, Mitsuiki, MD ; Morio, Tomohiro, MD, PhD ; Worth, Austen J.J., MD, PhD ; Blessing, Jacob, MD, PhD ; Van de Veerdonk, Frank, MD, PhD ; Feuchtinger, Tobias, MD ; Kanariou, Maria, MD, PhD ; Schmitt-Graeff, Annette, MD ; Jung, Sophie, DD, PhD ; Seneviratne, Suranjith, MD, PhD ; Burns, Siobhan, MD ; Belohradsky, Bernd H., MD ; Rezaei, Nima, MD, PhD ; Bakhtiar, Shahrzad, MD ; Speckmann, Carsten, MD ; Jordan, Michael, MD ; Grimbacher, Bodo, MD

Journal of allergy and clinical immunology, 2016-01, Vol.137 (1), p.223-230 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome
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Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome

Völkl, Simon ; Rensing-Ehl, Anne ; Allgäuer, Andrea ; Schreiner, Elisabeth ; Lorenz, Myriam Ricarda ; Rohr, Jan ; Klemann, Christian ; Fuchs, Ilka ; Schuster, Volker ; von Bueren, André O. ; Naumann-Bartsch, Nora ; Gambineri, Eleonora ; Siepermann, Kathrin ; Kobbe, Robin ; Nathrath, Michaela ; Arkwright, Peter D. ; Miano, Maurizio ; Stachel, Klaus-Daniel ; Metzler, Markus ; Schwarz, Klaus ; Kremer, Anita N. ; Speckmann, Carsten ; Ehl, Stephan ; Mackensen, Andreas

Blood, 2016-07, Vol.128 (2), p.227-238 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells
Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells
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Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells

Rieber, Nikolaus ; Singh, Anurag ; Öz, Hasan ; Carevic, Melanie ; Bouzani, Maria ; Amich, Jorge ; Ost, Michael ; Ye, Zhiyong ; Ballbach, Marlene ; Schäfer, Iris ; Mezger, Markus ; Klimosch, Sascha N. ; Weber, Alexander N.R. ; Handgretinger, Rupert ; Krappmann, Sven ; Liese, Johannes ; Engeholm, Maik ; Schüle, Rebecca ; Salih, Helmut Rainer ; Marodi, Laszlo ; Speckmann, Carsten ; Grimbacher, Bodo ; Ruland, Jürgen ; Brown, Gordon D. ; Beilhack, Andreas ; Loeffler, Juergen ; Hartl, Dominik

Cell host & microbe, 2015-04, Vol.17 (4), p.507-514 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

la Marca, Giancarlo, PharmSc ; Canessa, Clementina, MD ; Giocaliere, Elisa, BSc ; Romano, Francesca, BSc ; Malvagia, Sabrina, BSc ; Funghini, Silvia, PhD ; Moriondo, Maria, BSc ; Valleriani, Claudia, BSc ; Lippi, Francesca, MD ; Ombrone, Daniela, BSc ; Della Bona, Maria Luisa, PharmSc ; Speckmann, Carsten, MD ; Borte, Stephan, MD ; Brodszki, Nicholas, MD ; Gennery, Andrew R., MD ; Weinacht, Katja ; Celmeli, Fatih, MD ; Pagel, Julia, MD ; de Martino, Maurizio, MD ; Guerrini, Renzo, MD ; Wittkowski, Helmut, MD ; Santisteban, Ines, PhD ; Bali, Pawan, PhD ; Ikinciogullari, Aydan, MD ; Hershfield, Michael, MD ; Notarangelo, Luigi D., MD ; Resti, Massimo, MD ; Azzari, Chiara, MD

Journal of allergy and clinical immunology, 2014-07, Vol.134 (1), p.155-159.e3 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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5
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation
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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

Journal of allergy and clinical immunology, 2017-12, Vol.140 (6), p.1721-1724 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
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Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Enders, Anselm ; Zieger, Barbara ; Schwarz, Klaus ; Yoshimi, Ayami ; Speckmann, Carsten ; Knoepfle, Eva-Maria ; Kontny, Udo ; Müller, Christoph ; Nurden, Alan ; Rohr, Jan ; Henschen, Matthias ; Pannicke, Ulrich ; Niemeyer, Charlotte ; Nurden, Paquita ; Ehl, Stephan

Blood, 2006-07, Vol.108 (1), p.81-87 [Periódico revisado por pares]

Washington, DC: Elsevier Inc

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7
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome
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Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Janda, Ales ; Schwarz, Klaus ; van der Burg, Mirjam ; Vach, Werner ; Ijspeert, Hanna ; Lorenz, Myriam Ricarda ; Elgizouli, Magdeldin ; Pieper, Kathrin ; Fisch, Paul ; Hagel, Joachim ; Lorenzetti, Raquel ; Seidl, Maximilian ; Roesler, Joachim ; Hauck, Fabian ; Traggiai, Elisabetta ; Speckmann, Carsten ; Rensing-Ehl, Anne ; Ehl, Stephan ; Eibel, Hermann ; Rizzi, Marta

Blood, 2016-05, Vol.127 (18), p.2193-2202 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils
Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils
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Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils

Elling, Roland, MD ; Keller, Baerbel, PhD ; Weidinger, Carl, MD ; Häffner, Monika, (engineer) ; Deshmukh, Sachin D., PhD ; Zee, Isabelle, BS ; Speckmann, Carsten, MD ; Ehl, Stephan, MD ; Schwarz, Klaus, MD ; Feske, Stefan, MD ; Henneke, Philipp, MD

Journal of allergy and clinical immunology, 2016-05, Vol.137 (5), p.1587-1591.e7 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
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Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

la Marca, Giancarlo, PharmSc ; Canessa, Clementina, MD ; Giocaliere, Elisa, BSc ; Romano, Francesca, BSc ; Duse, Marzia, MD ; Malvagia, Sabrina, BSc ; Lippi, Francesca, MD ; Funghini, Silvia, BSc ; Bianchi, Leila, MD ; Della Bona, Maria Luisa, PharmSc ; Valleriani, Claudia, BSc ; Ombrone, Daniela, BSc ; Moriondo, Maria, BSc, PhD ; Villanelli, Fabio, BSc ; Speckmann, Carsten, MD ; Adams, Stuart, PhD ; Gaspar, Bobby H., MD, PhD ; Hershfield, Michael, MD ; Santisteban, Ines, PhD ; Fairbanks, Lynette, BSc, PhD ; Ragusa, Giovanni, MD ; Resti, Massimo, MD ; de Martino, Maurizio, MD ; Guerrini, Renzo, MD ; Azzari, Chiara, MD, PhD

Journal of allergy and clinical immunology, 2013-06, Vol.131 (6), p.1604-1610 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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10
Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis
Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis
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Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

Speckmann, Carsten, MD ; Neumann, Carla, MD ; Borte, Stephan, MD ; la Marca, Giancarlo, PharmSc ; Sass, Jörn Oliver, Dr.rer.nat ; Wiech, Elisabeth, PhD ; Fisch, Paul, MD ; Schwarz, Klaus, MD ; Buchholz, Bernd, MD ; Schlesier, Michael, PhD ; Felgentreff, Kerstin, MD ; Grimbacher, Bodo, MD ; Santisteban, Ines, PhD ; Bali, Pawan, PhD ; Hershfield, Michael S., MD ; Ehl, Stephan, MD

Journal of allergy and clinical immunology, 2012-10, Vol.130 (4), p.991-994 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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