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Anzahl der Publikationen: 13
Zeitschriftenartikel
Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. und Meyts, Isabelle
(2022):
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
In: Journal of Clinical Immunology, Bd. 42, Nr. 7: S. 1473-1507
Bousfiha, Aziz; Moundir, Abderrahmane; Tangye, Stuart G.; Picard, Capucine; Jeddane, Leila; Al-Herz, Waleed; Rundles, Charlotte C.; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. und Meyts, Isabelle
(2022):
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
In: Journal of Clinical Immunology, Bd. 42, Nr. 7: S. 1508-1520
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
Frey, Laura; Zietara, Natalia; Lyszkiewicz, Marcin; Marquardt, Benjamin; Mizoguchi, Yoko; Linder, Monika I.; Liu, Yanshan; Giesert, Florian; Wurst, Wolfgang; Dahlhoff, Maik; Schneider, Marlon R.; Wolf, Eckhard; Somech, Raz und Klein, Christoph
(2021):
Mammalian VPS45 orchestrates trafficking through the endosomal system.
In: Blood, Bd. 137, Nr. 14: S. 1932-1944
Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppaenen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. und Meyts, Isabelle
(2021):
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
In: Journal of Clinical Immunology, Bd. 41, Nr. 3: S. 666-679
Ziv, Alma; Werner, Lael; Konnikova, Liza; Awad, Aya; Jeske, Tim; Hastreiter, Maximilian; Mitsialis, Vanessa; Stauber, Tali; Wall, Sarah; Kotlarz, Daniel; Klein, Christoph; Snapper, Scott B.; Tzfati, Yehuda; Weiss, Batia; Somech, Raz und Shouval, Dror S.
(2020):
AnRTEL1Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
In: Journal of Clinical Immunology, Bd. 40, Nr. 7: S. 1010-1019
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]
Merdler-Rabinowicz, Rona; Grinberg, Anna; Jacobson, Jeffrey M.; Somekh, Ido; Klein, Christoph; Lev, Atar; Ihsan, Salama; Habib, Adib; Somech, Raz und Simon, Amos J.
(2019):
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
In: Pediatric Research, Bd. 86, Nr. 5: S. 603-607
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
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
Marcus, Nufar; Stauber, Tali; Lev, Atar; Simon, Amos J.; Stein, Jerry; Broides, Arnon; Somekh, Ido; Almashanu, Shlomo und Somech, Raz
(2018):
MHC II deficient infant identified by newborn screening program for SCID.
In: Immunologic Research, Bd. 66, Nr. 4: S. 537-542