Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity
Pfajfer, Laurène, Mair, Nina K., Jiménez-Heredia, Raúl, Genel, Ferah, Gulez, Nesrin, Ardeniz, Ömür, Hoeger, Birgit, Bal, Sevgi Köstel, Madritsch, Christoph, Kalinichenko, Artem, Chandra Ardy, Rico, Gerçeker, Bengü, Rey-Barroso, Javier, Ijspeert, Hanna, Tangye, Stuart G., Simonitsch-Klupp, Ingrid, Huppa, Johannes B., van der Burg, Mirjam, Dupré, Loïc, Boztug, Kaan
Published in Journal of allergy and clinical immunology (01.11.2018)
Published in Journal of allergy and clinical immunology (01.11.2018)
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Spencer, Sarah, Köstel Bal, Sevgi, Egner, William, Lango Allen, Hana, Raza, Syed I, Ma, Chi A, Gürel, Meltem, Zhang, Yuan, Sun, Guangping, Sabroe, Ruth A, Greene, Daniel, Rae, William, Shahin, Tala, Kania, Katarzyna, Ardy, Rico Chandra, Thian, Marini, Staples, Emily, Pecchia-Bekkum, Annika, Worrall, William P M, Stephens, Jonathan, Brown, Matthew, Tuna, Salih, York, Melanie, Shackley, Fiona, Kerrin, Diarmuid, Sargur, Ravishankar, Condliffe, Alison, Tipu, Hamid Nawaz, Kuehn, Hye Sun, Rosenzweig, Sergio D, Turro, Ernest, Tavaré, Simon, Thrasher, Adrian J, Jodrell, Duncan Ian, Smith, Kenneth G C, Boztug, Kaan, Milner, Joshua D, Thaventhiran, James E D
Published in The Journal of experimental medicine (02.09.2019)
Published in The Journal of experimental medicine (02.09.2019)
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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis
Ozen, Ahmet, Comrie, William A, Ardy, Rico C, Domínguez Conde, Cecilia, Dalgic, Buket, Beser, Ömer F, Morawski, Aaron R, Karakoc-Aydiner, Elif, Tutar, Engin, Baris, Safa, Ozcay, Figen, Serwas, Nina K, Zhang, Yu, Matthews, Helen F, Pittaluga, Stefania, Folio, Les R, Unlusoy Aksu, Aysel, McElwee, Joshua J, Krolo, Ana, Kiykim, Ayca, Baris, Zeren, Gulsan, Meltem, Ogulur, Ismail, Snapper, Scott B, Houwen, Roderick H.J, Leavis, Helen L, Ertem, Deniz, Kain, Renate, Sari, Sinan, Erkan, Tülay, Su, Helen C, Boztug, Kaan, Lenardo, Michael J
Published in The New England journal of medicine (06.07.2017)
Published in The New England journal of medicine (06.07.2017)
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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Wang, Lin, Aschenbrenner, Dominik, Zeng, Zhiyang, Cao, Xiya, Mayr, Daniel, Mehta, Meera, Capitani, Melania, Warner, Neil, Pan, Jie, Wang, Liren, Li, Qi, Zuo, Tao, Cohen-Kedar, Sarit, Lu, Jiawei, Ardy, Rico Chandra, Mulder, Daniel J, Dissanayake, Dilan, Peng, Kaiyue, Huang, Zhiheng, Li, Xiaoqin, Wang, Yuesheng, Wang, Xiaobing, Li, Shuchao, Bullers, Samuel, Gammage, Anís N, Warnatz, Klaus, Schiefer, Ana-Iris, Krivan, Gergely, Goda, Vera, Kahr, Walter H A, Lemaire, Mathieu, Lu, Chien-Yi, Siddiqui, Iram, Surette, Michael G, Kotlarz, Daniel, Engelhardt, Karin R, Griffin, Helen R, Rottapel, Robert, Decaluwe, Hélène, Laxer, Ronald M, Proietti, Michele, Hambleton, Sophie, Elcombe, Suzanne, Guo, Cong-Hui, Grimbacher, Bodo, Dotan, Iris, Ng, Siew C, Freeman, Spencer A, Snapper, Scott B, Klein, Christoph, Boztug, Kaan, Huang, Ying, Li, Dali, Uhlig, Holm H, Muise, Aleixo M
Published in Nature genetics (01.04.2021)
Published in Nature genetics (01.04.2021)
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Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress
Conde, Cecilia Domínguez, Petronczki, Özlem Yüce, Baris, Safa, Willmann, Katharina L, Girardi, Enrico, Salzer, Elisabeth, Weitzer, Stefan, Ardy, Rico Chandra, Krolo, Ana, Ijspeert, Hanna, Kiykim, Ayca, Karakoc-Aydiner, Elif, Förster-Waldl, Elisabeth, Kager, Leo, Pickl, Winfried F, Superti-Furga, Giulio, Martínez, Javier, Loizou, Joanna I, Ozen, Ahmet, van der Burg, Mirjam, Boztug, Kaan
Published in The Journal of clinical investigation (01.10.2019)
Published in The Journal of clinical investigation (01.10.2019)
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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
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Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation
Block, Jana, Rashkova, Christina, Castanon, Irinka, Platon, Jessica, Zoghi, Samaneh, Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, Van Der Made, Caspar, Cabrera-Perez, Rocio, Harms, Frederike Leonie, Ardy, Rico Chandra, Alavi, Samin, Alsina, Laia, Avila Polo, Rainiero, Sanchez Moreno, Paula, Jimenez Heredia, Raul, Hannich, Thomas, Huppa, Johannes, Distel, Martin, Pickl, Winfried, Yoder, Jeffrey, Traver, David, Engelhardt, Karin, Linden, Tobias, Kager, Leo, Hambleton, Sophie, Hoischen, Alexander, Illsinger, Sabine, Chavoshzadeh, Zahra, Kutsche, Kerstin, Da Costa, Lydie, Van Buul, Jaap, Calzada-Hernandez, Joan, Anton, Jordi, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupre, Loic, Boztug, Kaan
Published in Blood (28.11.2023)
Published in Blood (28.11.2023)
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Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Wang, Lin, Aschenbrenner, Dominik, Zeng, Zhiyang, Cao, Xiya, Mayr, Daniel, Mehta, Meera, Capitani, Melania, Warner, Neil, Pan, Jie, Wang, Liren, Li, Qi, Zuo, Tao, Cohen-Kedar, Sarit, Lu, Jiawei, Ardy, Rico Chandra, Mulder, Daniel J, Dissanayake, Dilan, Peng, Kaiyue, Huang, Zhiheng, Li, Xiaoqin, Wang, Yuesheng, Wang, Xiaobing, Li, Shuchao, Bullers, Samuel, Gammage, Anís N, Warnatz, Klaus, Schiefer, Ana-Iris, Krivan, Gergely, Goda, Vera, Kahr, Walter H A, Lemaire, Mathieu, Lu, Chien-Yi, Siddiqui, Iram, Surette, Michael G, Kotlarz, Daniel, Engelhardt, Karin R, Griffin, Helen R, Rottapel, Robert, Decaluwe, Hélène, Laxer, Ronald M, Proietti, Michele, Hambleton, Sophie, Elcombe, Suzanne, Guo, Cong-Hui, Grimbacher, Bodo, Dotan, Iris, Ng, Siew C, Freeman, Spencer A, Snapper, Scott B, Klein, Christoph, Boztug, Kaan, Huang, Ying, Li, Dali, Uhlig, Holm H, Muise, Aleixo M
Published in Nature genetics (01.02.2022)
Published in Nature genetics (01.02.2022)
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Polymerase [delta] deficiency causes syndromic immunodeficiency with replicative stress
Conde, Cecilia Dominguez, Petronczki, Ozlem Yuce, Baris, Safa, Willmann, Katharina L, Girardi, Enrico, Salzer, Elisabeth, Weitzer, Stefan, Ardy, Rico Chandra, Krolo, Ana, Ijspeert, Hanna, Kiykim, Ayca, Karakoc-Aydiner, Elif, Forster- Waldl, Elisabeth, Kager, Leo, Pickl, Winfried F, Superti-Furga, Giulio, Martinez, Javier, Loizou, Joanna I, Ozen, Ahmet, van der Burg, Mirjam, Boztug, Kaan
Published in The Journal of clinical investigation (01.10.2019)
Published in The Journal of clinical investigation (01.10.2019)
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The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity
Salzer, Elisabeth, Zoghi, Samaneh, Kiss, Máté G, Kage, Frieda, Rashkova, Christina, Stahnke, Stephanie, Haimel, Matthias, Platzer, René, Caldera, Michael, Ardy, Rico Chandra, Hoeger, Birgit, Block, Jana, Medgyesi, David, Sin, Celine, Shahkarami, Sepideh, Kain, Renate, Ziaee, Vahid, Hammerl, Peter, Bock, Christoph, Menche, Jörg, Dupré, Loïc, Huppa, Johannes B, Sixt, Michael, Lomakin, Alexis, Rottner, Klemens, Binder, Christoph J, Stradal, Theresia E B, Rezaei, Nima, Boztug, Kaan
Published in Science immunology (10.07.2020)
Published in Science immunology (10.07.2020)
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METHODS OF DIAGNOSING AND TREATING CD55 DEFICIENCY, HYPERACTIVATION OF COMPLEMENT, ANGIOPATHIC THROMBOSIS AND PROTEIN LOSING ENTEROPATHY (CHAPLE), A NEWLY IDENTIFIED ORPHAN DISEASE
Ardy, Rico Chandra, Comrie, Williams Andrew, Boztug, Kaan, Lenardo, Michael J, Su, Helen, Ozen, Ahmet Oguzhan
Year of Publication 21.09.2023
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Year of Publication 21.09.2023
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METHODS OF DIAGNOSING AND TREATING CD55 DEFICIENCY, HYPERACTIVATION OF COMPLEMENT, ANGIOPATHIC THROMBOSIS AND PROTEIN LOSING ENTEROPATHY (CHAPLE), A NEWLY IDENTIFIED ORPHAN DISEASE
LENARDO, Michael, J, SU, Helen, BOZTUG, Kaan, OZEN, Ahmet, Oguzhan, ARDY, Rico, Chandra, COMRIE, William, Andrew
Year of Publication 15.12.2021
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Year of Publication 15.12.2021
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METHODS OF DIAGNOSING AND TREATING CD55 DEFICIENCY, HYPERACTIVATION OF COMPLEMENT, ANGIOPATHIC THROMBOSIS AND PROTEIN LOSING ENTEROPATHY (CHAPLE), A NEWLY IDENTIFIED ORPHAN DISEASE
Ardy, Rico Chandra, Boztug, Kaan, Lenardo, Michael J, Comrie, William Andrew, Su, Helen, Ozen, Ahmet Oguzhan
Year of Publication 22.08.2019
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Year of Publication 22.08.2019
Patent
METHODS OF DIAGNOSING AND TREATING CD55 DEFICIENCY, HYPERACTIVATION OF COMPLEMENT, ANGIOPATHIC THROMBOSIS AND PROTEIN LOSING ENTEROPATHY (CHAPLE), A NEWLY IDENTIFIED ORPHAN DISEASE
LENARDO, Michael, J, SU, Helen, BOZTUG, Kaan, OZEN, Ahmet, Oguzhan, ARDY, Rico, Chandra, COMRIE, William, Andrew
Year of Publication 24.07.2019
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Year of Publication 24.07.2019
Patent
METHODS OF DIAGNOSING AND TREATING CD55 DEFICIENCY, HYPERACTIVATION OF COMPLEMENT, ANGIOPATHIC THROMBOSIS AND PROTEIN LOSING ENTEROPATHY (CHAPLE), A NEWLY IDENTIFIED ORPHAN DISEASE
LENARDO, Michael, J, SU, Helen, BOZTUG, Kaan, OZEN, Ahmet, Oguzhan, ARDY, Rico, Chandra, COMRIE, William, Andrew
Year of Publication 22.03.2018
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Year of Publication 22.03.2018
Patent