Search Results - "Deyá, Angela"

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations by Martín-Nalda, Andrea, Fortuny, Claudia, Rey, Lourdes, Bunney, Tom D., Alsina, Laia, Esteve-Solé, Ana, Bull, Daniel, Anton, Maria Carmen, Basagaña, María, Casals, Ferran, Deyá, Angela, García-Prat, Marina, Gimeno, Ramon, Juan, Manel, Martinez-Banaclocha, Helios, Martinez-Garcia, Juan J, Mensa-Vilaró, Anna, Rabionet, Raquel, Martin-Begue, Nieves, Rudilla, Francesc, Yagüe, Jordi, Estivill, Xavier, García-Patos, Vicente, Pujol, Ramon M., Soler-Palacín, Pere, Katan, Matilda, Pelegrín, Pablo, Colobran, Roger, Vicente, Asun, Arostegui, Juan I.

“…Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation…”
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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations by Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy

“…An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. To characterize the clinical and cellular…”
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Expected impact of immunomodulatory agents during pregnancy: A newborn's perspective by Luo, Yiyi, Acevedo, Daniel, Baños, Núria, Pluma, Andrea, Castellanos‐Moreira, Raúl, Moreno, Estefania, Rodríguez‐García, Sebastian, Deyà‐Martínez, Angela, García‐García, Ana, Quesada‐Masachs, Estefania, Torres, Mireia, Casellas, Manel, Grados, Dolors, Martí‐Castellote, Celia, Antón, Jordi, Vlagea, Alexandru, Juan, Manel, Esteve‐Solé, Ana, Alsina, Laia

“…The neonatal immune ontogeny begins during pregnancy to ensure that the neonate is well‐suited for perinatal life. It prioritizes Th2/M2 and regulatory…”
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Sirolimus as an alternative treatment in patients with granulomatous‐lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells by Deyà‐Martínez, Angela, Esteve‐Solé, Ana, Vélez‐Tirado, Natalia, Celis, Veronica, Costa, Jordi, Cols, Maria, Jou, Cristina, Vlagea, Alexandru, Plaza‐Martin, Ana María, Juan, Manel, Alsina, Laia

“…Background One of the most frequent non‐infectious complications of humoral immunodeficiencies with a CVID‐like pattern is a particular form of inflammatory…”
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B Regulatory Cells: Players in Pregnancy and Early Life by Esteve-Solé, Ana, Luo, Yiyi, Vlagea, Alexandru, Deyà-Martínez, Ángela, Yagüe, Jordi, Plaza-Martín, Ana María, Juan, Manel, Alsina, Laia

“…Pregnancy and early infancy represent two very particular immunological states. During pregnancy, the haploidentical fetus and the pregnant women develop…”
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Changes in Treg and Breg cells in a healthy pediatric population by Luo, Yiyi, Acevedo, Daniel, Vlagea, Alexandru, Codina, Anna, García-García, Ana, Deyà-Martínez, Angela, Martí-Castellote, Celia, Esteve-Solé, Ana, Alsina, Laia

“…The interpretation of clinical diagnostic results in suspected inborn errors of immunity, including Tregopathies, is hampered by the lack of age-stratified…”
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Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity by García-García, Ana, Fortuny, Claudia, Fumadó, Victoria, Jordan, Iolanda, Ruiz-López, Laura, González-Navarro, Europa Azucena, Egri, Natalia, Esteve-Solé, Ana, Luo, Yiyi, Vlagea, Alexandru, Cabedo, Manel Monsonís, Launes, Cristian, Soler, Aleix, Codina, Anna, Juan, Manel, Pascal, Mariona, Deyà-Martínez, Angela, Alsina, Laia

“…To describe SARS-CoV-2 infection outcome in unvaccinated children and young adults with inborn errors of immunity (IEI) and to compare their specific acute and…”
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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond by de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, Del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran

“…Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia…”
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Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency by Lum, Su Han, Selvarajah, Sabeena, Deya-Martinez, Angela, McNaughton, Peter, Sobh, Ali, Waugh, Sheila, Burton-Fanning, Shirelle, Newton, Lisa, Gandy, Julie, Nademi, Zohreh, Owens, Stephen, Williams, Eleri, Emonts, Marieke, Flood, Terry, Cant, Andrew, Abinun, Mario, Hambleton, Sophie, Gennery, Andrew R., Slatter, Mary

“…Post hematopoietic cell transplantation (HCT) autoimmune cytopenia (AIC) is a potentially life-threatening complication, but studies focusing on large cohorts…”
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The role of albuminuria in the follow-up of HIV-infected pediatric patients by Deyà-Martínez, Àngela, Noguera-Julian, Antoni, Vila, Jordi, Vila, Anna, Valls, Anna, Sánchez, Emília, Jiménez, Rafael, Fortuny, Clàudia

“…Background In HIV-infected adults, elevated albumin has been associated with increased inflammatory activity, HIV-related nephropathy, and type 2 diabetes…”
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Clues to management of neonatally diagnosed BTK deficiency by Deyà-Martínez, Angela, Esteve-Sole, Ana, Giner, Maria Teresa, Aróstegui, Juan I., Ruiz-Ortiz, Estíbaliz, Yagüe, Jordi, Juan, Manel, Plaza, Ana Maria, Alsina, Laia

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A Severe Valproate Overdose With Complete Recovery in a Newborn by Grynnerup, Anna, Fernández, Iván Sánchez, Hernández, Joan Calzada, Martínez, Angela Deyà, López, Jordi Muchart, García-Alix, Alfredo

“…Valproate overdose, extensively described in adults and older children, has been reported in only 1 newborn: a 26-day-old female who developed a severe…”
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Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management by Sánchez-Ramón, Silvia, Bermúdez, Arancha, González-Granado, Luis Ignacio, Rodríguez-Gallego, Carlos, Sastre, Ana, Soler-Palacín, Pere

“…Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological manifestations, such as peripheral cytopenias…”
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Mycophenolate mofetil for autoimmune cytopenias in children: high rates of response in inborn errors of immunity by Berrueco, Rubén, González-Forster, Elisa, Deya-Martinez, Angela, Solsona, María, García-García, Ana, Calzada-Hernández, Joan, Yiyi, Luo, Vlagea, Alexandru, Ruiz-Llobet, Anna, Alsina, Laia

“…Second-line treatments of autoimmune cytopenias (AC) are not well-defined in children. Mycophenolate mofetil (MMF) is an immunosuppressant agent that has been…”
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Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature by Deyà-Martínez, Angela, Rivière, Jaques G., Roxo-Junior, Pérsio, Ramakers, Jan, Bloomfield, Markéta, Guisado Hernandez, Paloma, Blanco Lobo, Pilar, Abu Jamra, Soraya Regina, Esteve-Sole, Ana, Kanderova, Veronika, García-García, Ana, Lopez-Corbeto, Mireia, Martinez Pomar, Natalia, Martín-Nalda, Andrea, Alsina, Laia, Neth, Olaf, Olbrich, Peter

“…Introduction Since the first description of gain of function (GOF) mutations in signal transducer and activator of transcription (STAT) 1, more than 300…”
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Metabolic and Renal Adverse Effects of Antiretroviral Therapy in HIV-infected Children and Adolescents by Fortuny, Clàudia, Deyà-Martínez, Ángela, Chiappini, Elena, Galli, Luisa, de Martino, Maurizio, Noguera-Julian, Antoni

“…Worldwide, the benefits of combined antiretroviral (ARV) therapy in morbidity and mortality due to perinatally acquired human immunodeficiency virus infection…”
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JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study by Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P, Cagdas, Deniz, Castelle, Martin, Chan, Alice Y, Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R, Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G, Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A, Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C, Burns, Siobhan, Seppänen, Mikko R J, Neth, Olaf, Albert, Michael H, Ehl, Stephan, Neven, Bénédicte, Speckmann, Carsten

“…Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic…”
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A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome by Badolato, Raffaele, Alsina, Laia, Azar, Antoine, Bertrand, Yves, Bolyard, Audrey A., Dale, David, Deyà-Martínez, Àngela, Dickerson, Kathryn E., Ezra, Navid, Hasle, Henrik, Kang, Hyoung Jin, Kiani-Alikhan, Sorena, Kuijpers, Taco W., Kulagin, Alexander, Langguth, Daman, Levin, Carina, Neth, Olaf, Olbrich, Peter, Peake, Jane, Rodina, Yulia, Rutten, Caroline E., Shcherbina, Anna, Tarrant, Teresa K., Vossen, Matthias G., Wysocki, Christian A., Belschner, Andrea, Bridger, Gary J., Chen, Kelly, Dubuc, Susan, Hu, Yanping, Jiang, Honghua, Li, Sunny, MacLeod, Rick, Stewart, Murray, Taveras, Arthur G., Yan, Tina, Donadieu, Jean

“…•Treatment with the oral CXCR4 antagonist mavorixafor resulted in increased levels of absolute neutrophil and lymphocyte counts vs placebo.•Infection…”
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Improved survival and graft function in ex vivo T-cell depleted haploidentical hematopoietic cell transplantation for primary immunodeficiency by Lum, Su Han, Sobh, Ali, Carruthers, Kay, Nademi, Zohreh, Watson, Helen, McNaughton, Peter, Selvarajah, Sabeena, Deyà-Martínez, Angela, Abinun, Mario, Flood, Terry, Cant, Andrew, Hambleton, Sophie, Gennery, Andrew R., Slatter, Mary

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Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease by Esteve-Solé, Ana, Sologuren, Ithaisa, Martínez-Saavedra, María Teresa, Deyà-Martínez, Àngela, Oleaga-Quintas, Carmen, Martinez-Barricarte, Rubén, Martin-Nalda, Andrea, Juan, Manel, Casanova, Jean-Laurent, Rodriguez-Gallego, Carlos, Alsina, Laia, Bustamante, Jacinta

“…The integrity of the interferon (IFN)-γ circuit is necessary to mount an effective immune response to intra-macrophagic pathogens, especially Mycobacteria…”
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