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3. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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4. Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019-2020

Author

Alamo-Junquera, Dolores, Politi, Julieta, Simon, Pere, Dieli-Crimi, Romina, Borrell, Ricardo Pujol, Colobran, Roger, Martinez-Gallo, Monica, Campins, Magda, Anton, Andres, Esperalba, Juliana, Andres, Cristina, Codina, Maria Gema, Polverino, Eva, Narciso, M. Rosa, Molinero, Emilia, and Rius, Cristina

Subjects
Barcelona, Spain (City) -- Health aspects, Infection control -- Methods, Poliomyelitis vaccine -- Complications and side effects, Public health, Poliomyelitis -- Control, Health
Abstract

In the nearly 30 years since the inception of the Global Polio Eradication Initiative (GPEI) by the World Health Organization (WHO), polio eradication efforts have decreased the number of wild [...]

Published
2021
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11. The kappa free light chain index and oligoclonal bands have a similar role in the McDonald criteria

Author

Arrambide, Georgina, primary, Espejo, Carmen, additional, Carbonell-Mirabent, Pere, additional, Dieli-Crimi, Romina, additional, Rodríguez-Barranco, Marta, additional, Castillo, Mireia, additional, Auger, Cristina, additional, Cárdenas-Robledo, Simón, additional, Castilló, Joaquín, additional, Cobo-Calvo, Álvaro, additional, Galán, Ingrid, additional, Midaglia, Luciana, additional, Nos, Carlos, additional, Otero-Romero, Susana, additional, Río, Jordi, additional, Rodríguez-Acevedo, Breogán, additional, Ruiz-Ortiz, Mariano, additional, Salerno, Annalaura, additional, Tagliani, Paula, additional, Tur, Carmen, additional, Vidal-Jordana, Angela, additional, Zabalza, Ana, additional, Sastre-Garriga, Jaume, additional, Rovira, Alex, additional, Comabella, Manuel, additional, Hernández-González, Manuel, additional, Montalban, Xavier, additional, and Tintore, Mar, additional

Published
2022
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12. Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Author

Franco-Jarava, Clara, primary, Valenzuela, Irene, additional, Riviere, Jacques G., additional, Garcia-Prat, Marina, additional, Martínez-Gallo, Mónica, additional, Dieli-Crimi, Romina, additional, Castells, Neus, additional, Batlle-Masó, Laura, additional, Soler-Palacin, Pere, additional, and Colobran, Roger, additional

Published
2022
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13. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Thalhammer, Julian, primary, Kindle, Gerhard, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Seppänen, Mikko R.J., additional, Fischer, Alain, additional, Grimbacher, Bodo, additional, Edgar, David, additional, Buckland, Matthew, additional, Mahlaoui, Nizar, additional, Ehl, Stephan, additional, Boztug, Kaan, additional, Brunner, Juergen, additional, Demel, Ulrike F., additional, Förster-Waldl, Elisabeth, additional, Gasteiger, Lukas M., additional, Göschl, Lisa, additional, Kojić, Marina, additional, Schroll, Andrea, additional, Seidel, Markus G., additional, Wintergerst, Uwe, additional, Wisgrill, Lukas, additional, Sharapova, Svetlana O., additional, Goffard, Jean-Christophe, additional, Kerre, Tessa, additional, Meyts, Isabelle, additional, Roosens, Fine, additional, Smet, Julie, additional, Haerynck, Filomeen, additional, Eric, Zelimir Pavle, additional, Milenova, Veneta, additional, Gagro, Alenka, additional, Richter, Darko, additional, Chovancova, Zita, additional, Hlavackova, Eva, additional, Litzman, Jiri, additional, Milota, Tomas, additional, Sediva, Anna, additional, Elaziz, Dalia Abd, additional, Alkady, Radwa Salaheldin, additional, El Sayed El Hawary, Rabab, additional, Eldash, Alia S., additional, Galal, Nermeen, additional, Lotfy, Sohilla, additional, Meshaal, Safa S., additional, Reda, Shereen M., additional, Sobh, Ali, additional, Elmarsafy, Aisha, additional, Brosselin, Pauline, additional, Courteille, Virginie, additional, De Vergnes, Nathalie, additional, Kracker, Sven, additional, Pergent, Martine, additional, Randrianomenjanahary, Philippe, additional, Ahrenstorf, Gerrit, additional, Albert, Michael H., additional, Ankermann, Tobias, additional, Atschekzei, Faranaz, additional, Baumann, Ulrich, additional, Becker, Benjamin C., additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Biegner, Anika-Kerstin, additional, Binder, Nadine, additional, Bode, Sebastian F.N., additional, Boesecke, Christoph, additional, Boetticher, Benedikt, additional, Borte, Michael, additional, Borte, Stephan, additional, Classen, Carl Friedrich, additional, Dirks, Johannes, additional, Dückers, Gregor, additional, El-Helou, Sabine, additional, Ernst, Diana, additional, Fasshauer, Maria, additional, Fecker, Gisela, additional, Felgentreff, Kerstin, additional, Foell, Dirk, additional, Ghosh, Sujal, additional, Girschick, Hermann J., additional, Goldacker, Sigune, additional, Graf, Norbert, additional, Graf, Dagmar, additional, Greil, Johann, additional, Hanitsch, Leif Gunnar, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heine, Sabine I., additional, Henes, Joerg C., additional, Hoenig, Manfred, additional, Holzer, Ursula, additional, Holzinger, Dirk, additional, Horneff, Gerd, additional, Hundsdoerfer, Patrick, additional, Jablonka, Alexandra, additional, Jakoby, Donate, additional, Joean, Oana, additional, Kaiser-Labusch, Petra, additional, Klemann, Christian, additional, Kobbe, Robin, additional, Körholz, Julia, additional, Kramm, Christof M., additional, Krüger, Renate, additional, Landwehr-Kenzel, Sybille, additional, Lehmberg, Kai, additional, Liese, Johannes G., additional, Lippert, Conrad Ferdinand, additional, Maccari, Maria Elena, additional, Masjosthusmann, Katja, additional, Meinhardt, Andrea, additional, Metzler, Markus, additional, Morbach, Henner, additional, Müller, Ingo, additional, Naumann-Bartsch, Nora, additional, Neubert, Jennifer, additional, Niehues, Tim, additional, Peter, Hans-Hartmut, additional, Rieber, Nikolaus, additional, Ritterbusch, Henrike, additional, Rockstroh, Jürgen Kurt, additional, Roesler, Joachim, additional, Schauer, Uwe, additional, Scheible, Raphael, additional, Schmalzing, Marc, additional, Schmidt, Reinhold Ernst, additional, Schneider, Dominik T., additional, Schreiber, Stefan, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Schulze-Koops, Hendrik, additional, Schulze-Sturm, Ulf, additional, Schuster, Volker, additional, Schwaneck, Eva C., additional, Schwarz, Klaus, additional, Schwarze-Zander, Carolynne, additional, Sirin, Mehtap, additional, Skapenko, Alla, additional, Sogkas, Georgios, additional, Sparber-Sauer, Monika, additional, Speckmann, Carsten, additional, Steinmann, Sandra, additional, Stiehler, Sophie, additional, Tenbrock, Klaus, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Wasmuth, Jan-Christian, additional, Weiss, Michael, additional, Witte, Torsten, additional, Wittke, Kirsten, additional, Wittkowski, Helmut, additional, Zeuner, Rainald A., additional, Farmaki, Evangelia, additional, Hatzistilianou, Maria N., additional, Kakkas, Ioannis, additional, Kanariou, Maria G., additional, Kapousouzi, Androniki, additional, Liatsis, Emmanouil, additional, Maggina, Paraskevi, additional, Papadopoulou-Alataki, Efimia, additional, Raptaki, Maria, additional, Speletas, Matthaios, additional, Tantou, Sofia, additional, Goda, Vera, additional, Kriván, Gergely, additional, Marodi, Laszlo, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Feighery, Conleth, additional, Leahy, Timothy Ronan, additional, Ryan, Paul, additional, Batzir, Nurit Assia, additional, Garty, Ben Zion, additional, Tamary, Hannah, additional, Aiuti, Alessandro, additional, Amodio, Donato, additional, Azzari, Chiara, additional, Barzaghi, Federica, additional, Baselli, Lucia A., additional, Cancrini, Caterina, additional, Carrabba, Maria, additional, Cazzaniga, Marco, additional, Cesaro, Simone, additional, Chinello, Matteo, additional, Danieli, Maria Giovanna, additional, Dellepiane, Rosa Maria, additional, Fabio, Giovanna, additional, Gambineri, Eleonora, additional, Lodi, Lorenzo, additional, Lougaris, Vassilios, additional, Marasco, Carolina, additional, Martire, Baldassarre, additional, Marzollo, Antonio, additional, Milito, Cinzia, additional, Moschese, Viviana, additional, Pignata, Claudio, additional, Plebani, Alessandro, additional, Porta, Fulvio, additional, Quinti, Isabella, additional, Ricci, Silvia, additional, Soresina, Annarosa, additional, Tommasini, Alberto, additional, Vacca, Angelo, additional, Vanessa, Clementina, additional, Blažienė, Audra, additional, Sitkauskiene, Brigita, additional, Gowin, Ewelina, additional, Heropolitańska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, Szaflarska, Anna, additional, Więsik-Szewczyk, Ewa, additional, Wolska-Kuśnierz, Beata, additional, Esteves, Isabel, additional, Faria, Emilia, additional, Marques, Laura Hora, additional, Neves, João Farela, additional, Silva, Susana L., additional, Teixeira, Carla, additional, Pereira da Silva, Sara, additional, Capilna, Brindusa Ruxandra, additional, Guseva, Marina N., additional, Shcherbina, Anna, additional, Bobcakova, Anna, additional, Ciznar, Peter, additional, Gabzdilova, Juliana, additional, Jesenak, Milos, additional, Kapustova, Lenka, additional, Orosova, Jaroslava, additional, Petrovicova, Otilia, additional, Raffac, Stefan, additional, Kopač, Peter, additional, Allende, Luis M., additional, Antolí, Arnau, additional, Blanch, Gemma Rocamora, additional, Carbone, Javier, additional, Dieli-Crimi, Romina, additional, Garcia-Prat, Marina, additional, Gil-Herrera, Juana, additional, Gonzalez-Granado, Luis Ignacio, additional, Agulló, Pilar Llobet, additional, Olbrich, Peter, additional, Parra-Martínez, Alba, additional, Paz-Artal, Estela, additional, Pleguezuelo, Daniel E., additional, Rodríguez, Nerea Salmón, additional, Sánchez-Ramón, Silvia, additional, Santos-Pérez, Juan Luis, additional, Solanich, Xavier, additional, Soler-Palacin, Pere, additional, González-Amores, Miriam, additional, Ekwall, Olov, additional, Fasth, Anders, additional, Bitzenhofer-Grüber, Michaela, additional, Candotti, Fabio, additional, Dimitriou, Florentia, additional, Heininger, Ulrich, additional, Holbro, Andreas, additional, Jandus, Peter, additional, Kolios, Antonios G.A., additional, Marschall, Karin, additional, Schmid, Jana Pachlopnik, additional, Posfay-Barbe, Klara M., additional, Prader, Seraina, additional, Reichenbach, Janine, additional, Steiner, Urs C., additional, Trück, Johannes, additional, Bredius, Robbert G., additional, de Kruijf- Bazen, Suzanne, additional, de Vries, Esther, additional, Henriet, Stefanie S.V., additional, Kuijpers, Taco W., additional, Potjewijd, Judith, additional, Rutgers, Abraham, additional, Stol, Kim, additional, van Aerde, Koen J., additional, Van den Berg, J. Merlijn, additional, van de Ven, Annick A.J.M., additional, Montfrans, Jorisvan, additional, Aydemir, Sezin, additional, Baris, Safa, additional, Dogu, Figen, additional, Ikinciogullari, Aydan, additional, Karakoc-Aydiner, Elif, additional, Kilic, Sara S., additional, Kiykim, Ayca, additional, Kökçü Karadağ, Şefika İlknur, additional, Kutukculer, Necil, additional, Ocak, Suheyla, additional, UNAL, Ekrem, additional, Boyarchuk, Oksana, additional, Hilfanova, Anna, additional, Kostyuchenko, Larysa V., additional, Alachkar, Hana, additional, Arkwright, Peter D., additional, Baxendale, Helen E., additional, Bernatoniene, Jolanta, additional, Coulter, Tanya I., additional, Garcez, Tomaz, additional, Goddard, Sarah, additional, Gompels, Mark M., additional, Grigoriadou, Sofia, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Ibberson, Lisa, additional, Nademi, Zoreh, additional, Noorani, Sadia, additional, Parvin, Shahnaz, additional, Steele, Cathal Laurence, additional, Thomas, Moira, additional, Waruiru, Catherine, additional, Yong, Patrick F.K., additional, and Bourne, Helen, additional

Published
2021
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14. Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

Author

Català-Moll, Francesc, primary, Ferreté-Bonastre, Anna G, additional, Li, Tianlu, additional, Weichenhan, Dieter, additional, Lutsik, Pavlo, additional, Ciudad, Laura, additional, Álvarez-Prado, Ángel F, additional, Rodríguez-Ubreva, Javier, additional, Klemann, Christian, additional, Speckmann, Carsten, additional, Vilas-Zornoza, Amaya, additional, Abolhassani, Hassan, additional, Martínez-Gallo, Mónica, additional, Dieli-Crimi, Romina, additional, Rivière, Jacques G, additional, Martín-Nalda, Andrea, additional, Colobran, Roger, additional, Soler-Palacín, Pere, additional, Kracker, Sven, additional, Hammarström, Lennart, additional, Prosper, Felipe, additional, Durandy, Anne, additional, Grimbacher, Bodo, additional, Plass, Christoph, additional, and Ballestar, Esteban, additional

Published
2021
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15. Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

Author

Català-Moll, Francesc, Ferreté-Bonastre, Anna G, Li, Tianlu, Weichenhan, Dieter, Lutsik, Pavlo, Ciudad, Laura, Álvarez-Prado, Ángel F, Rodríguez-Ubreva, Javier, Klemann, Christian, Speckmann, Carsten, Vilas-Zornoza, Amaya, Abolhassani, Hassan, Martínez Gallo, Mónica, Dieli-Crimi, Romina, Rivière, Jacques G, Martín-Nalda, Andrea, Colobrán Oriol, Roger, Soler-Palacín, Pere, Kracker, Sven, Hammarström, Lennart, Prosper, Felipe, Durandy, Anne, Grimbacher, Bodo, Plass, Christoph, Ballestar, Esteban, Català-Moll, Francesc, Ferreté-Bonastre, Anna G, Li, Tianlu, Weichenhan, Dieter, Lutsik, Pavlo, Ciudad, Laura, Álvarez-Prado, Ángel F, Rodríguez-Ubreva, Javier, Klemann, Christian, Speckmann, Carsten, Vilas-Zornoza, Amaya, Abolhassani, Hassan, Martínez Gallo, Mónica, Dieli-Crimi, Romina, Rivière, Jacques G, Martín-Nalda, Andrea, Colobrán Oriol, Roger, Soler-Palacín, Pere, Kracker, Sven, Hammarström, Lennart, Prosper, Felipe, Durandy, Anne, Grimbacher, Bodo, Plass, Christoph, and Ballestar, Esteban

Abstract

Activation-induced deaminase (AID) initiates antibody diversification in germinal center B cells by deaminating cytosines, leading to somatic hypermutation and class-switch recombination. Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary antibody deficiency. AID-mediated deamination has been proposed as leading to active demethylation of 5-methycytosines in the DNA, although evidence both supports and casts doubt on such a role. In this study, using whole-genome bisulfite sequencing of HIGM2 B cells, we investigated direct AID involvement in active DNA demethylation. HIGM2 naïve and memory B cells both display widespread DNA methylation alterations, of which ∼25% are attributable to active DNA demethylation. For genes that undergo active demethylation that is impaired in HIGM2 individuals, our analysis indicates that AID is not directly involved. We demonstrate that the widespread alterations in the DNA methylation and expression profiles of HIGM2 naïve B cells result from premature overstimulation of the B-cell receptor prior to the germinal center reaction. Our data support a role for AID in B cell central tolerance in preventing the expansion of autoreactive cell clones, affecting the correct establishment of DNA methylation patterns.

Published
2021

16. Gut IgA Enhances Systemic IgG Responses to Pneumococcal Vaccines Through the Commensal Microbiota

Author

Gutzeit, Cindy, primary, Grasset, Emilie K., additional, Matthews, Dean B., additional, Maglione, Paul J., additional, Magri, Giuliana, additional, Britton, Graham J., additional, Tomalin, Lewis, additional, Pybus, Marc, additional, Vaquero, Sonia Tejedor, additional, Veeramreddy, Pavan K., additional, Tachó-Piñot, Roser, additional, Nalda, Andrea Martín, additional, Prat, Marina García, additional, Gallo, Monica Martinez, additional, Dieli-Crimi, Romina, additional, Clemente, José C., additional, Mehandru, Saurabh, additional, Suarez-Farina, Mayte, additional, Faith, Jeremiah J., additional, Cunningham-Rundles, Charlotte, additional, and Cerutti, Andrea, additional

Published
2021
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17. A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis

Author

Espino-Paisán, Laura, Agudo-Jiménez, Teresa, Rosales-Martínez, Isabel, López-Cotarelo, Pilar, García-Martínez, María Ángel, Domínguez-Mozo, María Inmaculada, Pérez-Pérez, Silvia, Dieli-Crimi, Romina, Comabella, Manuel, Urcelay, Elena, Álvarez-Lafuente, Roberto, and Universitat Autònoma de Barcelona

Subjects
Male, sex differences, 0301 basic medicine, Epstein-Barr Virus Infections, Herpesvirus 4, Human, Herpesvirus 6, Human, multiple sclerosis, Serology, 0302 clinical medicine, Recurrence, Genotype, Immunology and Allergy, Relapse, Original Research, relapse, education.field_of_study, biology, Prognosis, Female, genetic marker, Adult, lcsh:Immunologic diseases. Allergy, Immunology, Population, Roseolovirus Infections, SNP, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Multiple sclerosis, HHV-6, Young Adult, 03 medical and health sciences, Multiple Sclerosis, Relapsing-Remitting, Sex Factors, Sex differences, medicine, Humans, education, Genetic marker, Retrospective Studies, business.industry, myelin basic protein, medicine.disease, Myelin basic protein, 030104 developmental biology, Spain, biology.protein, lcsh:RC581-607, business, Follow-Up Studies, 030215 immunology
Abstract

Myelin basic protein (MBP) is thought to be one of the key autoantigens in multiple sclerosis (MS) development. A recent study described the association of the single nucleotide polymorphism (SNP) rs12959006, within the MBP gene, with a higher risk of relapse and worse prognosis. We aim at studying potential associations of this SNP to MS in an independent population. Clinical data of the first 5 years of the disease were collected retrospectively from 291 MS confirmed patients. MBP polymorphism rs12959006 was genotyped in all patients. Associations with EDSS, number of relapses and serology for Herpesvirus 6 (HHV-6) and Epstein Barr (EBV) viruses were studied. Lymphocyte activation measured by CD69 expression was also analyzed according to sex and rs12959006 genotype. The rs12959006 polymorphism contributed significantly to a higher number of relapses at 5 years after onset only in male patients (rs12959006 ∗ TT β = 0.74 [0.36-1.09]; p = 7 × 10 -5). Titers of anti-HHV6 IgG antibodies showed also a mild association with relapses, both in male and female patients (β = 0.01 [0.01-0.02]; p = 3.7 × 10 -8). Both the genetic variation in MBP and HHV-6 infection aid in predicting a higher number of relapses during the first years of MS. The association described in MBP rs12959006 ∗ T is exclusive to male patients

Published
2020

18. COVID-19 infection in first trimester of pregnancy marked by a liver cytolysis in a woman previously treated by hydroxychloroquine for repeated implantation failure : a case report

Author

Lamazou, F., Oger, P., Dieli-Crimi, Romina, Guerin, A., Letouzey, V., Octernaud, S., Place, V., Calès, P., Descamps, P., Delaroche, L., Universitat Autònoma de Barcelona, Vall d’Hebron Research Institute (VHIR), Jeffrey Modell Foundation, Clínica de Reproducción Asistida y Fertilidad (IVI Barcelona), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), Université d'Angers (UA), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), and Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
First trimester, MESH: Antiviral Agents / therapeutic use, MESH: Coronavirus Infections / pathology, MESH: Pregnancy Complications, Infectious / pathology, Intrauterine growth restriction, Case Report, 0302 clinical medicine, Medical microbiology, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, 030212 general & internal medicine, Pregnancy Complications, Infectious, MESH: Pneumonia, Viral / pathology, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Obstetrics, MESH: Betacoronavirus* / genetics, 3. Good health, Infectious Diseases, Liver, MESH: Hydroxychloroquine / therapeutic use, Toxicity, RNA, Viral, 030211 gastroenterology & hepatology, Female, medicine.symptom, Coronavirus Infections, medicine.drug, Hydroxychloroquine, Adult, medicine.medical_specialty, China, Nausea, Pneumonia, Viral, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Real-Time Polymerase Chain Reaction, Antiviral Agents, lcsh:Infectious and parasitic diseases, MESH: Liver / pathology, Diagnosis, Differential, 03 medical and health sciences, Betacoronavirus, [SDV.SP.MED]Life Sciences [q-bio]/Pharmaceutical sciences/Medication, Case report, medicine, Humans, lcsh:RC109-216, Embryo Implantation, Pandemics, Transaminases, Fetus, business.industry, SARS-CoV-2, Hepatic cytolysis, COVID-19, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, medicine.disease, Pregnancy Trimester, First, Differential diagnosis, MESH: Transaminases / metabolism, business, MESH: Betacoronavirus* / isolation & purification
Abstract

Background In December 2019, a new disease (COVID-19) caused by a novel coronavirus called SARS-CoV-2 emerged in China and spread to many other countries. There is only limited data about the clinical features of COVID-19 during pregnancy, especially in first trimester. Case presentation We report a COVID-19 infection in a 35 years-old patient in first trimester of pregnancy and its consequent medical care. At 7 weeks of pregnancy, the patient, who did not have any pregestational comorbidities, complained of intense nausea and asthenia. An important liver cytolysis was discovered with biological perturbations of transaminases levels. No respiratory symptoms were recorded. Classical viral aetiologies and drug-related toxicity were discarded. Because of the aggravation of the symptoms and the occurrence of the breathlessness, the patient was tested for the COVID-19 in a nasopharyngeal swab. The RTq-PCR assay indicated the presence of SARS-CoV-2 RNA. In the absence of severe symptoms, the patient was monitored at home according to the French government guidelines. After a few days, the symptoms resolved without any complications. The pregnancy is still ongoing without any visible sequelae on the foetus so far. Conclusions This first case illustrated the difficulty of COVID-19 diagnosis in patients with isolated digestive symptoms in first trimester of pregnancy that could be confused with gravida hyperemesis. Monitoring of pregnancy after an episode of COVID-19 should be strengthened with bimonthly foetal growth ultrasounds and doppler assessments because of the risks for intrauterine growth restriction. Comprehensive data on larger numbers of first trimester gravid women with COVID-19 are required to better understanding the overall impact of SARS-CoV-2 on maternal and birth outcomes.

Published
2020

19. Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management

Author

Sanchez-Ramon, Silvia, Bermudez, Arancha, Ignacio Gonzalez-Granado, Luis, Rodriguez-Gallego, Carlos, Sastre, Ana, Soler-Palacin, Pere, Alonso, Laura, Allende, Luis, Alsina, Laia, Maria Bielsa, Ana, Calleja-Antolin, Sara, Camara, Carmen, Carbone, Javier, Carreras, Carmen, De Andres Martin, Ana, Deya, Angela, Diaz de Heredia, Cristina, Dieli-Crimi, Romina, Luis Diez, Jose, Dominguez-Pinilla, Nerea, Fernandez-Pereira, Luis, Ma Garcia, Jose, Gil-Herrera, Juana, Gutierrez, Antonio, Jarque, Isidro, Juan, Manel, Lendinez, Francisco, Llobet, Pilar, Lopez, Monica, Lopez de la Guia, Ana, Lopez-Hoyos, Marcos, Martin-Nalda, Andrea, Martinez, Monica, Melero, Josefa, Mendez-Echevarria, Ana, Moral, Pedro, Neth, Olaf, Nunez, Maria, Ocejo-Vinyals, Gonzalo, Ochoa-Grullon, Juliana, Olbrich, Peter, Ona, Raquel, Perez-Encinas, Manuel, Pons, Jaime, Rodriguez, Carmen, Sanchez, Berta, Luis Santos-Perez, Juan, Elena Seoane, Ma, Vlagea, Alexandru, ID Signal Oncohaematology Grp, Institut Català de la Salut, [Sánchez-Ramón S] Hospital Clínico San Carlos, Madrid, Spain. [Bermúdez A] Hospital Universitario Marqués de Valdecilla, Santander, Spain. [González-Granado LI] Hospital Universitario 12 Octubre, Madrid, Spain. [Rodríguez-Gallego C] Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Canary Islands, Spain. [Sastre A] Hospital Universitario La Paz, Madrid, Spain. [Soler-Palacín P] Hospital Universitari Vall d'Hebron, Barcelona, Spain., and Vall d'Hebron Barcelona Hospital Campus

Subjects
0301 basic medicine, inmunoglobulinas, calidad, acceso y evaluación de la atención sanitaria::calidad de la atención sanitaria::factores epidemiológicos::comorbilidad [ATENCIÓN DE SALUD], humanos, immunoglobulins/deficiency, 0302 clinical medicine, Clinical history, Other subheadings::/diagnosis [Other subheadings], Immunology and Allergy, Medicine, Child, Paediatric patients, Original Research, Hematology, autoimmunity, Immunoglobulins, Intravenous, adulto, enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES], Warning signs, Síndromes de deficiència immunitària - Diagnòstic, Hematologic Neoplasms, Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES], antibodies/deficiency, lcsh:Immunologic diseases. Allergy, Adult, medicine.medical_specialty, Sang - Càncer, síndromes de inmunodeficiencia, Primary Immunodeficiency Diseases, Immunology, Otros calificadores::/diagnóstico [Otros calificadores], Lymphoproliferative disorders, Immunoglobulins, Primary care, Secondary immunodeficiency, 03 medical and health sciences, Comorbiditat, immunoglobulins/administration and dosage, Internal medicine, Humans, Health Care Quality, Access, and Evaluation::Quality of Health Care::Epidemiologic Factors::Comorbidity [HEALTH CARE], neoplasias::neoplasias por localización::neoplasias hematológicas [ENFERMEDADES], Intensive care medicine, Cytopenia, business.industry, Immunologic Deficiency Syndromes, Neoplasms::Neoplasms by Site::Hematologic Neoplasms [DISEASES], medicine.disease, neoplasias hematológicas, 030104 developmental biology, lcsh:RC581-607, business, 030215 immunology
Abstract

Background: Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological manifestations, such as peripheral cytopenias or lymphoproliferative syndromes. Early diagnosis and management have significant prognostic implications. Secondary immunodeficiencies (SID) may also be induced by oncohaematological diseases and their treatments. Haematologists and oncologists must therefore be aware of the association between blood disorders and cancer and ID, and be prepared to offer their patients appropriate treatment without delay. Our aim was to define the warning signs of primary and secondary IDs in paediatric and adult patients with oncohaematological manifestations. Methods: A multidisciplinary group of six experts (2 haematologists, 2 immunologists, and 2 paediatricians specializing in ID) conducted a literature review and prepared a document based on agreements reached an in-person meeting. An external group of 44 IDs specialists from all over Spain assessed the document and were consulted regarding their level of agreement. Results: This document identifies the haematological and extra-haematological diseases that should prompt a suspicion of PIDs in adults and children, in both primary care and haematology and oncology departments. Cytopenia and certain lymphoproliferative disorders are key diagnostic pointers. The diagnosis must be based on a detailed clinical history, physical exploration, complete blood count and standard laboratory tests. The immunological and haematological tests included in the diagnostic process will depend on the care level. Patients who are candidates for immunoglobulin replacement therapy must be carefully selected, and treatment should be offered as soon as possible to avoid the development of complications. Finally, this document recommends procedures for monitoring these patients. Conclusions: This document combines scientific evidence with the opinion of a broad panel of experts, and emphasizes the importance of an early diagnosis and treatment to avoid complications. The resulting document is a useful tool for primary care physicians and specialists who see both adult and paediatric patients with oncohaematological diseases., This article received funding fee from CSL Behring.

Published
2019

20. Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

Author

Català-Moll, Francesc, primary, Weichenhan, Dieter, additional, Lutsik, Pavlo, additional, Álvarez-Prado, Ángel F., additional, Rodríguez-Ubreva, Javier, additional, Klemann, Christian, additional, Speckmann, Carsten, additional, Abolhassani, Hassan, additional, Martínez-Gallo, Mónica, additional, Dieli-Crimi, Romina, additional, Soler-Palacín, Pere, additional, Kracker, Sven, additional, Hammarström, Lennart, additional, Durandy, Anne, additional, Grimbacher, Bodo, additional, Plass, Christoph, additional, and Ballestar, Esteban, additional

Published
2019
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22. Anticuerpos específicos de enfermedad celíaca: relación con otros pruebas diagnósticas e implicaciones clínicas

Author

López Palacios, Natalia, Bodas Pinedo, Andrés, Dieli Crimi, Romina, López Palacios, Natalia, Bodas Pinedo, Andrés, and Dieli Crimi, Romina

Abstract

La Enfermedad Celíaca (EC) es una enteropatía autoinmune de carácter crónico, dependiente de gluten y que se acompaña de anticuerpos específicos en individuos predispuestos genéticamente. Los anticuerpos pueden estar dirigidos frente a la enzima transglutaminasa tisular tipo 2 (a-TG2 o anticuerpos frente a endomisio, EMA) o frente a péptidos deamidados de gliadina (a-PDG). Hace unos años se desarrolló un kit que combina la transglutaminasa tisular tipo 2 con péptidos específicos de gliadina (a-TG2-GL) y que por tanto puede detectar anticuerpos frente a TG2, frente a péptidos derivados del gluten y se ha descrito que también frente a neoepítopos que se generan tras el entrecruzamiento fisiológico de la TG2 con péptidos de gliadina. Respecto a la genética, la presencia de las combinaciones alélicas HLA-DQ2 (DQA1*05-DQB1*02) y/o HLA-DQ8 (DQA1*03-DQB1*03:02), son las consideradas de riesgo a desarrollar la enfermedad. La biopsia duodenal constituye un pilar importante en el diagnóstico, aunque las lesiones encontradas en la EC no son patognomónicas..., Celiac disease (CD) is a chronic autoimmune enteropathy which is developed after gluten-ingestion in genetically susceptible individuals and commonly appears accompanied by specific antibodies. These antibodies can be directed against type 2 transglutaminase enzyme (a-TG2 or endomysial antibodies, EMA) or deamidated gliadin peptides (a-DGP). Years ago, a different commercial kit which combine type 2 transglutaminase and specific gliadin peptides was developed (a-TG2-GL), which can detect antibodies against TG2, against gluten-derived peptides and it has been described that it also recognizes neoepitopes that are generated after the physiological crosslinking between TG2 and gliadin peptides. Regarding genetics, the HLA-DQ2 (DQA1*05 - DQB1*02) and/or HLA-DQ8 (DQA1*03 - DQB1*03:02) haplotypes are the ones considered to confer risk to develop the disease. Duodenal biopsy has an important diagnostic value, although the lesions found in CD are not pathognomonic...

Published
2017

23. Anticuerpos específicos de enfermedad celíaca: relación con otros pruebas diagnósticas e implicaciones clínicas

Author

Dieli Crimi, Romina, López Palacios, Natalia, Bodas Pinedo, Andrés, Dieli Crimi, Romina, López Palacios, Natalia, and Bodas Pinedo, Andrés

Abstract

La Enfermedad Celíaca (EC) es una enteropatía autoinmune de carácter crónico, dependiente de gluten y que se acompaña de anticuerpos específicos en individuos predispuestos genéticamente. Los anticuerpos pueden estar dirigidos frente a la enzima transglutaminasa tisular tipo 2 (a-TG2 o anticuerpos frente a endomisio, EMA) o frente a péptidos deamidados de gliadina (a-PDG). Hace unos años se desarrolló un kit que combina la transglutaminasa tisular tipo 2 con péptidos específicos de gliadina (a-TG2-GL) y que por tanto puede detectar anticuerpos frente a TG2, frente a péptidos derivados del gluten y se ha descrito que también frente a neoepítopos que se generan tras el entrecruzamiento fisiológico de la TG2 con péptidos de gliadina. Respecto a la genética, la presencia de las combinaciones alélicas HLA-DQ2 (DQA1*05-DQB1*02) y/o HLA-DQ8 (DQA1*03-DQB1*03:02), son las consideradas de riesgo a desarrollar la enfermedad. La biopsia duodenal constituye un pilar importante en el diagnóstico, aunque las lesiones encontradas en la EC no son patognomónicas...

Published
2016

27. Taller de Autoinmunidad 2013 de la Sociedad Española de Inmunología. Anticuerpos anticitoplasma de neutrófilo (ANCA)

Author

Julià Benique, M. Rosa, primary, Martínez García, Pedro, additional, Villegas Martín, Eduardo, additional, Carrasco Sayalero, Ángela, additional, Sánchez Ibarrola, Alfonso, additional, Ocaña Pérez, Esther, additional, Marcaida Benito, Goitzane, additional, Rodríguez Delgado, Juana, additional, Martínez Becerra, María José, additional, Laporta Martín, Paz, additional, Fernández Pereira, Luis, additional, Pacho de Lucas, María Aránzazu, additional, Jiménez Garófano, Carmen, additional, Vinyas Gomis, Odette, additional, Garcia, Mila, additional, Dieli Crimi, Romina, additional, Eiras Martínez, Pablo, additional, Bas, Jordi, additional, Muñoz Calleja, Cecilia, additional, García Marcos, Margarita, additional, Calleja Antolín, Sara, additional, López Hoyos, Marcos, additional, Espárrago Rodilla, Manuel, additional, Gelpí Sabater, Carmen, additional, Prada Iñurrategui, Álvaro, additional, Sáez, Raquel, additional, Ontañón Rodríguez, Jesús, additional, Alcalá Peña, M. Inmaculada, additional, Vargas Pérez, M. Luisa, additional, Jurado Roger, Aurora, additional, Vlagea, Alexandru, additional, Pastor Barellas, Rosa María, additional, Roy Ariño, Garbiñe, additional, Jiménez Jiménez, Juana, additional, Muñoz Vico, Francisco Javier, additional, Martínez Cáceres, Eva M., additional, Pascual-Salcedo Pascual, Dora, additional, Álvarez Doforno, Rita, additional, Serrano, Antonio, additional, Paz Artal, Estela, additional, Torio Gómez, Silvina, additional, Cid Fernández, José Javier, additional, Mozo Avellaned, Lourdes, additional, Barrios del Pino, Yvelise, additional, Alarcón Torres, Inmaculada, additional, Rodríguez Mahou, Margarita, additional, Montes Ares, Olga, additional, Torio Ruiz, Alberto, additional, Almeida González, Delia, additional, Plaza López, Aresio, additional, Rodríguez Hernández, Carmen, additional, Aparicio Hernández, María Belén, additional, Marín Sánchez, Ana, additional, García Pacheco, José Marcos, additional, Montes Cano, Marco Antonio, additional, González Rodríguez, Concepción, additional, Jaimez Gámiz, Laura, additional, Rodríguez Gutiérrez, Juan Francisco, additional, Alsina Donadeu, Montserrat, additional, Pujalte Mora, Francisco, additional, and Amengual Guedan, María José, additional

Published
2013
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28. Anticuerpos específicos de enfermedad celíaca: relación con otros pruebas diagnósticas e implicaciones clínicas

Author

Dieli Crimi, Romina, López Palacios, Natalia, and Bodas Pinedo, Andrés

Subjects
Gastroenterología y hepatología
Abstract

La Enfermedad Celíaca (EC) es una enteropatía autoinmune de carácter crónico, dependiente de gluten y que se acompaña de anticuerpos específicos en individuos predispuestos genéticamente. Los anticuerpos pueden estar dirigidos frente a la enzima transglutaminasa tisular tipo 2 (a-TG2 o anticuerpos frente a endomisio, EMA) o frente a péptidos deamidados de gliadina (a-PDG). Hace unos años se desarrolló un kit que combina la transglutaminasa tisular tipo 2 con péptidos específicos de gliadina (a-TG2-GL) y que por tanto puede detectar anticuerpos frente a TG2, frente a péptidos derivados del gluten y se ha descrito que también frente a neoepítopos que se generan tras el entrecruzamiento fisiológico de la TG2 con péptidos de gliadina. Respecto a la genética, la presencia de las combinaciones alélicas HLA-DQ2 (DQA1*05-DQB1*02) y/o HLA-DQ8 (DQA1*03-DQB1*03:02), son las consideradas de riesgo a desarrollar la enfermedad. La biopsia duodenal constituye un pilar importante en el diagnóstico, aunque las lesiones encontradas en la EC no son patognomónicas...

29. Inflammatory bowel disease and celiac disease: overlaps and differences.

Author

Pascual V, Dieli-Crimi R, López-Palacios N, Bodas A, Medrano LM, and Núñez C

Subjects
Adaptive Immunity, Age of Onset, Autoimmunity, Biomarkers blood, Genetic Predisposition to Disease, Humans, Immunity, Innate, Phenotype, Prognosis, Risk Factors, Celiac Disease diagnosis, Celiac Disease epidemiology, Celiac Disease genetics, Celiac Disease immunology, Celiac Disease therapy, Colitis, Ulcerative diagnosis, Colitis, Ulcerative epidemiology, Colitis, Ulcerative genetics, Colitis, Ulcerative immunology, Colitis, Ulcerative therapy, Crohn Disease diagnosis, Crohn Disease epidemiology, Crohn Disease genetics, Crohn Disease immunology, Crohn Disease therapy
Abstract

Recent findings demonstrate the common genetic basis for many immune-mediated diseases, and consequently, the partially shared pathogenesis. We collected these findings and reviewed the extension of these overlaps to other disease characteristics. Two autoimmune diseases were selected that also share the specific target organ, the bowel. The etiology and immunopathogenesis of both conditions characterized by chronic intestinal inflammation, inflammatory bowel disease (IBD) and celiac disease (CeD), are not completely understood. Both are complex diseases with genetics and environment contributing to dysregulation of innate and adaptive immune responses, leading to chronic inflammation and disease. CeD constitutes a particular disease because the main environmental and genetic triggers are largely known. IBD comprises two main clinical forms, Crohn's disease and ulcerative colitis, which most likely involve a complex interplay between some components of the commensal microbiota and other environmental factors in their origin. These multifactorial diseases encompass a broad spectrum of clinical phenotypes and ages of onset, although the clinical presentation often differs depending on childhood or adult onset, with greater heterogeneity commonly observed in adults.

Published
2014
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