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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 16
Zeitschriftenartikel
Lanz, Anna-Lisa; Erdem, Serife; Ozcan, Alper; Ceylaner, Gulay; Cansever, Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet und Hauck, Fabian
(2024):
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
In: Journal of Clinical Immunology, Bd. 44, 1
[PDF, 1MB]
Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Rädler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kühl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian und Beziat, Vivien
(2022):
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
In: Journal of Experimental Medicine, Bd. 220, Nr. 2, e20220275
Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andres; Buchta, Mary; Huebscher, Katrin; Gamez-Diaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Omur; Atkinson, T. Prescott; Kut, Fulya Bektas; Celmeli, Fatih; Rees, Helen; Kilic, Sara S.; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Ozgur, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; Bernuth, Horst von; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb und Grimbacher, Bodo
(2021):
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1804-1838
Hangul, Melih; Tuzuner, Ahmet B.; Somekh, Ido; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem und Kose, Mehmet
(2021):
Type 1 Plasminogen Deficiency With Pulmonary Involvement: Novel Treatment and Novel Mutation.
In: Journal of Pediatric Hematology Oncology, Bd. 43, Nr. 4, E558-E560
Kisaarslan, Aysenur Pac; Witzel, Maximilam; Unal, Ekrem; Rohlfs, Meino; Akyildiz, Basaknur; Dogan, Muhammet E.; Poyrazoglu, Hakan; Klein, Christoph und Patiroglu, Turkan
(2021):
Refractory and Fatal Presentation of Severe Autoimmune Hemolytic Anemia in a Child With the DNASE1L3 Mutation Complicated With an Additional DOCK8 Variant.
In: Journal of Pediatric Hematology Oncology, Bd. 43, Nr. 3, E452-E456
Yilmaz, Ebru; Kuehn, Hye S.; Odakir, Eda; Niemela, Julie E.; Ozcan, Alper; Eken, Ahmet; Rohlfs, Meino; Cansever, Murat; Gok, Veysel; Aydin, Firdevs; Karakukcu, Musa; Hauck, Fabian; Klein, Christoph; Unal, Ekrem; Rosenzweig, Sergio D. und Patiroglu, Turkan
(2021):
Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.
In: Journal of Pediatric Hematology Oncology, Bd. 43, Nr. 3, E351-E357
Simon, Amos J.; Golan, Adi Cohen; Lev, Atar; Stauber, Tali; Barel, Ortal; Somekh, Ido; Klein, Christoph; AbuZaitun, Omar; Eyal, Eran; Kol, Nitzan; Unal, Ekrem; Amariglio, Ninette; Rechavi, Gideon und Somech, Raz
(2020):
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
In: Clinical Immunology, Bd. 214, 108376
Lyszkiewicz, Marcin; Zietara, Natalia; Frey, Laura; Pannicke, Ulrich; Stern, Marcel; Liu, Yanshan; Fan, Yanxin; Puchalka, Jacek; Hollizeck, Sebastian; Somekh, Ido; Rohlfs, Meino; Yilmaz, Tugba; Unal, Ekrem; Karakukcu, Musa; Patiroglu, Türkan; Kellerer, Christina; Karasu, Ebru; Sykora, Karl-Walter; Lev, Atar; Simon, Amos; Somech, Raz; Roesler, Joachim; Hoenig, Manfred; Keppler, Oliver T.; Schwarz, Klaus und Klein, Christoph
(2020):
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
In: Nature Communications, Bd. 11, Nr. 1, 1031
[PDF, 3MB]
Cansever, Murat; Zietara, Natalia; Chiang, Samuel C. C.; Ozcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Rohlfs, Meino; Somekh, Ido; Canoz, Ozlem; Abdulrezzak, Ummuhan; Bryceson, Yenan; Klein, Christoph; Unal, Ekrem und Patiroglu, Turkan
(2020):
A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma.
In: Journal of Pediatric Hematology Oncology, Bd. 42, Nr. 2: S. 156-159
Ghosh, Sujal; Bal, Sevgi Koestel; Edwards, Emily S. J.; Pillay, Bethany; Heredia, Raul Jimenez; Cipe, Funda Erol; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A.; Zhang, Yu; Oler, Andrew J.; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K.; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I. M.; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krueger, Renate; Meisel, Roland; Oommen, Prasad T.; Morris, Emma; Neven, Benedicte; Worth, Austen; Montfrans, Joris van; Fraaij, Pieter L. A.; Choo, Sharon; Dogu, Figen; Davies, E. Graham; Burns, Siobhan; Duckers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C.; Pan-Hammarstroem, Qiang; Hammarstroem, Lennart; Lenardo, Michael J.; Ma, Cindy S.; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G.; Lankester, Arjan C. und Boztug, Kaan
(2020):
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
In: Blood, Bd. 136, Nr. 23: S. 2638-2655
Magg, Thomas; Shcherbina, Anna; Arslan, Duran; Desai, Mukesh M.; Wall, Sarah; Mitsialis, Vanessa; Conca, Raffaele; Unal, Ekrem; Karacabey, Neslihan; Mukhina, Anna; Rodina, Yulia; Taur, Prasad D.; Illig, David; Marquardt, Benjamin; Hollizeck, Sebastian; Jeske, Tim; Gothe, Florian; Schober, Tilmann; Rohlfs, Meino; Koletzko, Sibylle; Lurz, Eberhard; Muise, Aleixo M.; Snapper, Scott B.; Hauck, Fabian; Klein, Christoph und Kotlarz, Daniel
(2019):
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
In: Inflammatory Bowel Diseases, Bd. 25, Nr. 11: S. 1788-1795
Somekh, Ido; Thian, Marini; Medgyesi, David; Gulez, Nesrin; Magg, Thomas; Gallon Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J.; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J.; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M.; Ozer, Erdener; Akcal, Omer; Conca, Raffaele; Patiroglu, Turkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K.; Orange, Jordan S.; Milena Trujillo-Vargas, Claudia; Luis Franco, Jose; Hauck, Fabian; Somech, Raz; Klein, Christoph und Boztug, Kaan
(2019):
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
In: Blood, Bd. 134, Nr. 18: S. 1510-1516
Eken, Ahmet; Cansever, Murat; Somekh, Ido; Mizoguchi, Yoko; Zietara, Natalia; Okus, Fatma Zehra; Erdem, Serife; Canatan, Halit; Akyol, Sefika; Ozcan, Alper; Karakukcu, Musa; Hollizeck, Sebastian; Rohlfs, Meino; Unal, Ekrem; Klein, Christoph und Patiroglu, Turkan
(2019):
Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells.
In: Journal of Clinical Immunology, Bd. 39, Nr. 4: S. 391-400
Grabowski, Piotr; Hesse, Sebastian; Hollizeck, Sebastian; Rohlfs, Meino; Behrends, Uta; Sherkat, Roya; Tamary, Hannah; Unal, Ekrem; Somech, Raz; Patiroglu, Turkan; Canzar, Stefan; Ten Bosch, Jutte van der Werff; Klein, Christoph und Rappsilber, Juri
(2019):
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
In: Molecular & Cellular Proteomics, Bd. 18, Nr. 4: S. 760-772
Somekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Karakukcu, Musa; Unal, Ekrem; Yilmaz, Ebru; Patiroglu, Turkan; Cansever, Murat; Frizinsky, Shirly; Vishnvenska-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos J.; Lev, Atar; Klein, Christoph; Kotlarz, Daniel und Somech, Raz
(2018):
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
In: Journal of Clinical Immunology, Bd. 38, Nr. 6: S. 699-710
Lévy, Romain; Okada, Satoshi; Béziat, Vivien; Moriya, Kunihiko; Liu, Caini; Chai, Louis Yi Ann; Migaud, Mélanie; Hauck, Fabian; Al Ali, Amein; Cyrus, Cyril; Vatte, Chittibabu; Patiroglu, Turkan; Unal, Ekrem; Ferneiny, Marie; Hyakuna, Nobuyuki; Nepesov, Serdar; Oleastro, Matias; Ikinciogullari, Aydan; Dogu, Figen; Asano, Takaki; Ohara, Osamu; Yun, Ling; Della Mina, Erika; Bronnimann, Didier; Itan, Yuval; Gothe, Florian; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Tahuil, Natalia; Aytekin, Caner; Salhi, Aicha; Al Muhsen, Saleh; Kobayashi, Masao; Toubiana, Julie; Abel, Laurent; Li, Xiaoxia; Camcioglu, Yildiz; Celmeli, Fatih; Klein, Christoph; AlKhater, Suzan A.; Casanova, Jean-Laurent und Puel, Anne
(2016):
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
In: Proceedings of the National Academy of Sciences of the United States of America, Bd. 113, Nr. 51, E8277-E8285