Pesquisa | Biblioteca Virtual em Saúde

1.

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Li, Yue; Führer, Marita; Bahrami, Ehsan; Socha, Piotr; Klaudel-Dreszler, Maja; Bouzidi, Amira; Liu, Yanshan; Lehle, Anna S; Magg, Thomas; Hollizeck, Sebastian; Rohlfs, Meino; Conca, Raffaele; Field, Michael; Warner, Neil; Mordechai, Slae; Shteyer, Eyal; Turner, Dan; Boukari, Rachida; Belbouab, Reda; Walz, Christoph; Gaidt, Moritz M; Hornung, Veit; Baumann, Bernd; Pannicke, Ulrich; Al Idrissi, Eman; Ali Alghamdi, Hamza; Sepulveda, Fernando E; Gil, Marine; de Saint Basile, Geneviève; Hönig, Manfred; Koletzko, Sibylle; Muise, Aleixo M; Snapper, Scott B; Schwarz, Klaus; Klein, Christoph; Kotlarz, Daniel.

Proc Natl Acad Sci U S A; 116(3): 970-975, 2019 01 15.

Artigo em Inglês | MEDLINE | ID: mdl-30591564

2.

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency.

Jardine, Sasha; Anderson, Sierra; Babcock, Stephen; Leung, Gabriella; Pan, Jie; Dhingani, Neel; Warner, Neil; Guo, Conghui; Siddiqui, Iram; Kotlarz, Daniel; Dowling, James J; Melnyk, Roman; Snapper, Scott B; Klein, Christoph; Thiagarajah, Jay R; Muise, Aleixo M.

Gastroenterology; 2019 Nov 16.

Artigo em Inglês | MEDLINE | ID: mdl-31743734

3.

Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency.

Illig, David; Navratil, Marta; Kelecic, Jadranka; Conca, Raffaele; Hojsak, Iva; Jadresin, Oleg; Coric, Marijana; Vukovic, Jurica; Rohlfs, Meino; Hollizeck, Sebastian; Bohne, Jens; Klein, Christoph; Kotlarz, Daniel.

J Clin Immunol; 39(2): 207-215, 2019 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-30903457

4.

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.

Lehle, Anna S; Farin, Henner F; Marquardt, Benjamin; Michels, Birgitta E; Magg, Thomas; Li, Yue; Liu, Yanshan; Ghalandary, Maryam; Lammens, Katja; Hollizeck, Sebastian; Rohlfs, Meino; Hauck, Fabian; Conca, Raffaele; Walz, Christoph; Weiss, Batia; Lev, Atar; Simon, Amos J; Groß, Olaf; Gaidt, Moritz M; Hornung, Veit; Clevers, Hans; Yazbeck, Nadine; Hanna-Wakim, Rima; Shouval, Dror S; Warner, Neil; Somech, Raz; Muise, Aleixo M; Snapper, Scott S; Bufler, Philip; Koletzko, Sibylle; Klein, Christoph; Kotlarz, Daniel.

Gastroenterology; 2018 Sep 26.

Artigo em Inglês | MEDLINE | ID: mdl-30267714

5.

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rß1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Nekooie-Marnany, Nioosha; Deswarte, Caroline; Ostadi, Vajiheh; Bagherpour, Bahram; Taleby, Elaheh; Ganjalikhani-Hakemi, Mazdak; Le Voyer, Tom; Rahimi, Hamid; Rosain, Jérémie; Pourmoghadas, Zahra; Sheikhbahaei, Saba; Khoshnevisan, Razieh; Petersheim, Daniel; Kotlarz, Daniel; Klein, Christoph; Boisson-Dupuis, Stéphanie; Casanova, Jean-Laurent; Bustamante, Jacinta; Sherkat, Roya.

J Clin Immunol; 38(7): 787-793, 2018 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-30255293

6.

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

Somekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Karakukcu, Musa; Unal, Ekrem; Yilmaz, Ebru; Patiroglu, Turkan; Cansever, Murat; Frizinsky, Shirly; Vishnvenskia-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos J; Lev, Atar; Klein, Christoph; Kotlarz, Daniel; Somech, Raz.

J Clin Immunol; 38(6): 711, 2018 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-30099695

7.

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

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; Somech, Raz.

J Clin Immunol; 38(6): 699-710, 2018 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-30030704

8.

Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.

Bahrami, Ehsan; Witzel, Maximilian; Racek, Tomas; Puchalka, Jacek; Hollizeck, Sebastian; Greif-Kohistani, Naschla; Kotlarz, Daniel; Horny, Hans-Peter; Feederle, Regina; Schmidt, Heinrich; Sherkat, Roya; Steinemann, Doris; Göhring, Gudrun; Schlegelbeger, Brigitte; Albert, Michael H; Al-Herz, Waleed; Klein, Christoph.

J Allergy Clin Immunol; 140(4): 1112-1119, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28115216

9.

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li, Qi; Lee, Cheng Hiang; Peters, Lauren A; Mastropaolo, Lucas A; Thoeni, Cornelia; Elkadri, Abdul; Schwerd, Tobias; Zhu, Jun; Zhang, Bin; Zhao, Yongzhong; Hao, Ke; Dinarzo, Antonio; Hoffman, Gabriel; Kidd, Brian A; Murchie, Ryan; Al Adham, Ziad; Guo, Conghui; Kotlarz, Daniel; Cutz, Ernest; Walters, Thomas D; Shouval, Dror S; Curran, Mark; Dobrin, Radu; Brodmerkel, Carrie; Snapper, Scott B; Klein, Christoph; Brumell, John H; Hu, Mingjing; Nanan, Ralph; Snanter-Nanan, Brigitte; Wong, Melanie; Le Deist, Francoise; Haddad, Elie; Roifman, Chaim M; Deslandres, Colette; Griffiths, Anne M; Gaskin, Kevin J; Uhlig, Holm H; Schadt, Eric E; Muise, Aleixo M.

Gastroenterology; 150(5): 1196-1207, 2016 05.

Artigo em Inglês | MEDLINE | ID: mdl-26836588

10.

Inherited biallelic CSF3R mutations in severe congenital neutropenia.

Triot, Alexa; Järvinen, Päivi M; Arostegui, Juan I; Murugan, Dhaarini; Kohistani, Naschla; Dapena Díaz, José Luis; Racek, Tomas; Puchalka, Jacek; Gertz, E Michael; Schäffer, Alejandro A; Kotlarz, Daniel; Pfeifer, Dietmar; Díaz de Heredia Rubio, Cristina; Ozdemir, Mehmet Akif; Patiroglu, Turkan; Karakukcu, Musa; Sánchez de Toledo Codina, José; Yagüe, Jordi; Touw, Ivo P; Unal, Ekrem; Klein, Christoph.

Blood; 123(24): 3811-7, 2014 Jun 12.

Artigo em Inglês | MEDLINE | ID: mdl-24753537

11.

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Avitzur, Yaron; Guo, Conghui; Mastropaolo, Lucas A; Bahrami, Ehsan; Chen, Hannah; Zhao, Zhen; Elkadri, Abdul; Dhillon, Sandeep; Murchie, Ryan; Fattouh, Ramzi; Huynh, Hien; Walker, Jennifer L; Wales, Paul W; Cutz, Ernest; Kakuta, Yoichi; Dudley, Joel; Kammermeier, Jochen; Powrie, Fiona; Shah, Neil; Walz, Christoph; Nathrath, Michaela; Kotlarz, Daniel; Puchaka, Jacek; Krieger, Jonathan R; Racek, Tomas; Kirchner, Thomas; Walters, Thomas D; Brumell, John H; Griffiths, Anne M; Rezaei, Nima; Rashtian, Parisa; Najafi, Mehri; Monajemzadeh, Maryam; Pelsue, Stephen; McGovern, Dermot P B; Uhlig, Holm H; Schadt, Eric; Klein, Christoph; Snapper, Scott B; Muise, Aleixo M.

Gastroenterology; 146(4): 1028-39, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24417819

12.

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.

Neven, Bénédicte; Mamessier, Emilie; Bruneau, Julie; Kaltenbach, Sophie; Kotlarz, Daniel; Suarez, Felipe; Masliah-Planchon, Julien; Billot, Katy; Canioni, Danielle; Frange, Pierre; Radford-Weiss, Isabelle; Asnafi, Vahid; Murugan, Dhaarini; Bole, Christine; Nitschke, Patrick; Goulet, Olivier; Casanova, Jean-Laurent; Blanche, Stéphane; Picard, Capucine; Hermine, Olivier; Rieux-Laucat, Frederic; Brousse, Nicole; Davi, Frederic; Baud, Véronique; Klein, Christoph; Nadel, Bertrand; Ruemmele, Frank; Fischer, Alain.

Blood; 122(23): 3713-22, 2013 Nov 28.

Artigo em Inglês | MEDLINE | ID: mdl-24089328

13.

Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

Murugan, Dhaarini; Albert, Michael H; Langemeier, Jörg; Bohne, Jens; Puchalka, Jacek; Järvinen, Päivi M; Hauck, Fabian; Klenk, Anne K; Prell, Christine; Schatz, Stephanie; Diestelhorst, Jana; Sciskala, Barbara; Kohistani, Naschla; Belohradsky, Bernd H; Müller, Susanna; Kirchner, Thomas; Walter, Mark R; Bufler, Philip; Muise, Aleixo M; Snapper, Scott B; Koletzko, Sibylle; Klein, Christoph; Kotlarz, Daniel.

J Clin Immunol; 34(3): 331-9, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24519095

14.

The phenotype of human STK4 deficiency.

Abdollahpour, Hengameh; Appaswamy, Giridharan; Kotlarz, Daniel; Diestelhorst, Jana; Beier, Rita; Schäffer, Alejandro A; Gertz, E Michael; Schambach, Axel; Kreipe, Hans H; Pfeifer, Dietmar; Engelhardt, Karin R; Rezaei, Nima; Grimbacher, Bodo; Lohrmann, Sabine; Sherkat, Roya; Klein, Christoph.

Blood; 119(15): 3450-7, 2012 Apr 12.

Artigo em Inglês | MEDLINE | ID: mdl-22294732

15.

Toll-like receptor 2/6 agonist macrophage-activating lipopeptide-2 promotes reendothelialization and inhibits neointima formation after vascular injury.

Grote, Karsten; Sonnenschein, Kristina; Kapopara, Piyushkumar R; Hillmer, Anja; Grothusen, Christina; Salguero, Gustavo; Kotlarz, Daniel; Schuett, Harald; Bavendiek, Udo; Schieffer, Bernhard.

Arterioscler Thromb Vasc Biol; 33(9): 2097-104, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23868938

16.

Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency.

Kotlarz, Daniel; Zietara, Natalia; Milner, Joshua D; Klein, Christoph.

Curr Opin Pediatr; 26(6): 704-12, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-25321844

17.

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

Kotlarz, Daniel; Beier, Rita; Murugan, Dhaarini; Diestelhorst, Jana; Jensen, Ole; Boztug, Kaan; Pfeifer, Dietmar; Kreipe, Hans; Pfister, Eva-Doreen; Baumann, Ulrich; Puchalka, Jacek; Bohne, Jens; Egritas, Odul; Dalgic, Buket; Kolho, Kaija-Leena; Sauerbrey, Axel; Buderus, Stephan; Güngör, Tayfun; Enninger, Axel; Koda, Yu Kar Ling; Guariso, Graziella; Weiss, Batia; Corbacioglu, Selim; Socha, Piotr; Uslu, Nuray; Metin, Ayse; Wahbeh, Ghassan T; Husain, Khalid; Ramadan, Dina; Al-Herz, Waleed; Grimbacher, Bodo; Sauer, Martin; Sykora, Karl-Walter; Koletzko, Sibylle; Klein, Christoph.

Gastroenterology; 143(2): 347-55, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22549091

18.

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Glocker, Erik-Oliver; Kotlarz, Daniel; Boztug, Kaan; Gertz, E Michael; Schäffer, Alejandro A; Noyan, Fatih; Perro, Mario; Diestelhorst, Jana; Allroth, Anna; Murugan, Dhaarini; Hätscher, Nadine; Pfeifer, Dietmar; Sykora, Karl-Walter; Sauer, Martin; Kreipe, Hans; Lacher, Martin; Nustede, Rainer; Woellner, Cristina; Baumann, Ulrich; Salzer, Ulrich; Koletzko, Sibylle; Shah, Neil; Segal, Anthony W; Sauerbrey, Axel; Buderus, Stephan; Snapper, Scott B; Grimbacher, Bodo; Klein, Christoph.

N Engl J Med; 361(21): 2033-45, 2009 Nov 19.

Artigo em Inglês | MEDLINE | ID: mdl-19890111

19.

Arrhythmia susceptibility in mice after therapy with beta-catenin-transduced hematopoietic progenitor cells after myocardial ischemia/reperfusion.

Gardiwal, Ajmal; Reissmann, Lara-Marie; Kotlarz, Daniel; Oswald, Hanno; Korte, Thomas; Landmesser, Ulf; Klein, Gunnar; Templin, Christian.

Cardiology; 114(3): 199-207, 2009.

Artigo em Inglês | MEDLINE | ID: mdl-19602881

20.

Establishment of immortalized multipotent hematopoietic progenitor cell lines by retroviral-mediated gene transfer of beta-catenin.

Templin, Christian; Kotlarz, Daniel; Rathinam, Chozhavendan; Rudolph, Cornelia; Schätzlein, Sonja; Ramireddy, Kodanda; Rudolph, K Lenhard; Schlegelberger, Brigitte; Klein, Christoph; Drexler, Helmut.

Exp Hematol; 36(2): 204-15, 2008 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-18206728

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