Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility

Autor: Daniela Olivia Lopez-Rivera, Lina Maria Castano-Jaramillo, Marco Antonio Yamazaki-Nakashimada, Rosa María Nideshda Ramirez Uribe, Celso Tomás Corcuera Delgado, Karen R. Ignorosa-Arellano, Edgar Alejandro Medina-Torres, Laura Berrón Ruiz, Sara Elva Espinosa-Padilla, Selma C. Scheffler-Mendoza, Gabriel López-Velázquez, Mario Ernesto Cruz-Munoz, Saul O. Lugo Reyes

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

IntroductionThe transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.ObjectiveWe aimed to investigate and characterize two unr

Externí odkaz: https://doaj.org/article/9db3bfaf28694f92baaa12f9d6c4cb8c

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Autor: Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang

Publikováno v: Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.

Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6

Lymphomatoid granulomatosis in a patient with DOCK8 deficiency

Autor: Eduardo Liquidano‐Perez, Adriana del Carmen Alva‐Chaire, Marco Antonio Yamazaki‐Nakashimada, Ángela Andrea Pesantez Abril, Sara Alejandra Solorzano Morales, Alfonso G. Ramírez Ristori, Tania Barragán Arévalo, María Edith Gonzalez‐Serrano, Selma C. Scheffler‐Mendoza, Rodolfo Rodríguez‐Jurado

Publikováno v: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyREFERENCES. 33(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::378e3a4077e13acc67972644c7a24d6c
https://pubmed.ncbi.nlm.nih.gov/35754125

A male infant with COVID-19 in the context of ARPC1B combined deficiency

Autor: Lina Maria Castano Jaramillo, Marco Yamazaki Nakashimada, Selma C Scheffler Mendoza, Juan Carlos Bustamante Ogando, Sara Espinosa, Saul Oswaldo Lugo Reyes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::34a464802211d643690683baed99b29f
https://doi.org/10.22541/au.159170773.34049082

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Autor: Velez‐Tirado, Natalia¹ (AUTHOR) natalia_velezt5@hotmail.com, Yamazaki‐Nakashimada, Marco Antonio² (AUTHOR), Lopez Valentín, Enrique³ (AUTHOR), Partida‐Gaytan, Armando⁴ (AUTHOR), Scheffler‐Mendoza, Selma C.² (AUTHOR), Chaia Semerena, Genny M.⁵ (AUTHOR), Alvarez‐Cardona, Aristóteles⁶ (AUTHOR), Suárez Gutiérrez, Marcos Alejandro⁶ (AUTHOR), Medina Torres, Edgar Alejandro⁷ (AUTHOR), Baeza Capetillo, Patricia^8,9 (AUTHOR), Hirschmugl, Tatjana¹⁰ (AUTHOR), Garncarz, Wojciech¹⁰ (AUTHOR), Espinosa‐Padilla, Sara Elva⁷ (AUTHOR), Aguirre Hernández, Jesús⁹ (AUTHOR), Klein, Christoph¹¹ (AUTHOR), Boztug, Kaan^{10,12,13,14,15} (AUTHOR), Lugo Reyes, Saul O.⁷ (AUTHOR)

Publikováno v: Scandinavian Journal of Immunology. Apr2022, Vol. 95 Issue 4, p1-27. 27p.