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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder Bereshneh, Ali H.; Wilson, Kirkland A.; Pan, Xueyang; Hannan, Shabab B.; Cooper, Megan A.; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M.; Azamian, Mahshid S.; Scott, Daryl A.; Au, Ping Yee Billie; Appendino, Juan Pablo; Scheffer, Ingrid E.; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S.; Morgan, Angela T.; Ekure, Ekanem; Shulman, Joshua M.; Hildebrandt, Friedhelm; Posey, Jennifer E.; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J. Share Save
Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells Bauman, Bradly M.; Stinson, Jeffrey R.; Kallarakal, Melissa A.; Huang, Lei Haley; Frank, Andrew M.; Sukumar, Gauthaman; Saucier, Nermina; Dalgard, Clifton L.; Chan, Alice Y.; Milner, Joshua D.; Cooper, Megan A.; Snow, Andrew L. Share Save
Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation Henderson, Lauren A.; Abraham, Roshini S.; Ahmed, Aisha; Blount, Lindsey; Canna, Scott W.; Chaimowitz, Natalia S.; Chandrakasan, Shanmuganathan; Coates, Bria; Connelly, James A.; Cooper, Megan A.; Duncan, Christine N.; French, Anthony; Hazen, Melissa; Hermiston, Michelle L.; Nolan, Brian; Ray, Anish; Rose, Melissa J.; Satter, Lisa Forbes; Schulert, Grant; Tejtel, Sara Kristen Sexson; Vogel, Tiphanie; Walkovich, Kelly; Zinter, Matt S. Share Save
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Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells Rao, Geetha; Mack, Corinne D.; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E.; Wong, Melanie; Hsu, Peter; Stormon, Michael O.; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K.; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D.; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A.; Bezrodnik, Liliana; Nadeau, Kari C.; Abraham, Roshini S.; Seppanen, Mikko R. J.; Bustamante, Jacinta; Forbes, Lisa R.; Leiding, Jennifer W.; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; Uzel, Gulbu; Tangye, Stuart G.; Ma, Cindy S. Share Save
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A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice Toth, Kelsey A.; Schmitt, Erica G.; Kolicheski, Ana; Greenberg, Zev J.; Levendosky, Elizabeth; Saucier, Nermina; Trammel, Kelsey; Oikonomou, Vasileios; Lionakis, Michail S.; Klechevsky, Eynav; Kim, Brian S.; Schuettpelz, Laura G.; Saligrama, Naresha; Cooper, Megan A. Share Save
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MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks Mathias, Brendan; O'Leary, David; Saucier, Nermina; Ahmad, Faiz; White, Lynn S.; Russell, Le'Mark; Shinawi, Marwan; Smith, Matthew J.; Abraham, Roshini S.; Cooper, Megan A.; Kitcharoensakkul, Maleewan; Green, Abby M.; Bednarski, Jeffrey J. Share Save
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease Diaz-Cabrera, Natalie M.; Bauman, Bradly M.; Iro, Mildred A.; Dabbah-Krancher, Gina; Molho-Pessach, Vered; Zlotogorski, Abraham; Shamriz, Oded; Dinur-Schejter, Yael; Sharon, Tatyana Dubnikov; Stepensky, Polina; Tal, Yuval; Eisenstein, Eli M.; Pietzsch, Leonora; Schuetz, Catharina; Abreu, Damien; Coughlin, Carrie C.; Cooper, Megan A.; Milner, Joshua D.; Williams, Anthony; Armoni-Weiss, Gil; Snow, Andrew L.; Leiding, Jennifer W. Share Save
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (vol 15, 22, 2023) Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andres Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T.; Bustos, Ingrid G.; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaibi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E.; Delmonte, Ottavia M.; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K.; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarstroem, Lennart; Hatipoglu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christele; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarstroem, Qiang; de Diego, Rebeca Perez; Planas-Serra, Laura; Pleguezuelo, Daniel E.; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Riviere, Jacques G.; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlueter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M.; Baris-Feldman, Hagit; Butte, Manish J.; Constantinescu, Stefan N.; Cooper, Megan A.; Dalgard, Clifton L.; Fellay, Jacques; Heath, James R.; Lau, Yu-Lung; Lifton, Richard P.; Maniatis, Tom; Mogensen, Trine H.; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-Francois; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D.; Boisson-Dupuis, Stephanie; Su, Helen C.; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurelie Share Save
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome Delafontaine, Selket; Iannuzzo, Alberto; Bigley, Tarin M.; Mylemans, Bram; Rana, Ruchit; Baatsen, Pieter; Poli, Maria Cecilia; Rymen, Daisy; Jansen, Katrien; Mekahli, Djalila; Casteels, Ingele; Cassiman, Catherine; Demaerel, Philippe; Lepelley, Alice; Fremond, Marie -Louise; Schrijvers, Rik; Bossuyt, Xavier; Vints, Katlijn; Huybrechts, Wim; Tacine, Rachida; Willekens, Karen; Corveleyn, Anniek; Boeckx, Bram; Baggio, Marco; Ehlers, Lisa; Munck, Sebastian; Lambrechts, Diether; Voet, Arnout; Moens, Leen; Bucciol, Giorgia; Cooper, Megan A.; Davis, Carla M.; Delon, Jerome; Meyts, Isabelle Share Save
Human PLCG2 haploinsufficiency results in a nowel natural killer cell immunodeficiency Alinger, Joshua B.; Mace, Emily M.; Porter, Justin. R.; Mah-Som, Annelise Y.; Daugherty, Allyssa L.; Li, Stephanie; Throm, Allison A.; Pingel, Jeanette T.; Saucier, Nermina; Yao, Albert; Chinn, Ivan K.; Lupski, James R.; Ehlayel, Mohammad; Keller, Michael; Bowman, Greg R.; Cooper, Megan A.; Orange, Jordan S.; French, Anthony R. Share Save
Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations Borna, Simon; Lee, Esmond; Nideffer, Jason; Ramachandran, Akshaya; Wang, Bing; Baker, Jeanette; Mavers, Melissa; Lakshmanan, Uma; Narula, Mansi; Garrett, Amy Kang-Hee; Schulze, Janika; Olek, Sven; Marois, Louis; Gernez, Yael; Bhatia, Monica; Chong, Hey Jin; Walter, Jolan; Kitcharoensakkul, Maleewan; Lang, Abigail; Cooper, Megan A.; Bertaina, Alice; Roncarolo, Maria Grazia; Meffre, Eric; Bacchetta, Rosa Share Save
IL-15 Priming Alters IFN-γ Regulation in Murine NK Cells Cimpean, Maria; Keppel, Molly P.; Gainullina, Anastasiia; Fan, Changxu; Sohn, Hyogon; Schedler, Nathan C.; Swain, Amanda; Kolicheski, Ana; Shapiro, Hannah; Young, Howard A.; Wang, Ting; Artyomov, Maxim N.; Cooper, Megan A. Share Save
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