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Massively scalable generation, discovery, and clinical (re-)classification of inborn errors of immunity using cutting-edge genome engineering Walsh, Zachary; Frangieh, Chris; Heck, Clarissa; Grauman, Sarah; Pollard, Jared; Huang, Lei Haley; Lee, Ashley; Bogunovic, Dusan; Milner, Joshua; Izar, Benjamin 分享 收藏
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Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells 显性干扰CARD11变体通过破坏JNK信号通路来促进T细胞中GATA3的表达。 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. 分享 收藏
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions 使用基因组测序扩展新生儿筛查早期可行条件 Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K. 分享 收藏
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Characterizing Long COVID in Children and Adolescents 儿童和青少年长COVID的特征 Gross, Rachel S.; Thaweethai, Tanayott; Kleinman, Lawrence C.; Snowden, Jessica N.; Rosenzweig, Erika B.; Milner, Joshua D.; Tantisira, Kelan G.; Rhee, Kyung E.; Jernigan, Terry L.; Kinser, Patricia A.; Salisbury, Amy L.; Warburton, David; Mohandas, Sindhu; Wood, John C.; Newburger, Jane W.; Truong, Dongngan T.; Flaherman, Valerie J.; Metz, Torri D.; Karlson, Elizabeth W.; Chibnik, Lori B.; Pant, Deepti B.; Krishnamoorthy, Aparna; Gallagher, Richard; Lamendola-Essel, Michelle F.; Hasson, Denise C.; Katz, Stuart D.; Yin, Shonna; Dreyer, Benard P.; Carmilani, Megan; Coombs, K.; Fitzgerald, Megan L.; Guethe, Nick; Hornig, Mady; Letts, Rebecca J.; Peddie, Aimee K.; Taylor, Brittany D.; Foulkes, Andrea S.; Stockwell, Melissa S. 分享 收藏
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 色素失禁是胸腺发育不良，I型ifn自身抗体和病毒性疾病的基础 Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent 分享 收藏
Mast cell activation syndrome: Current understanding and research needs 肥大细胞活化综合征: 当前的理解和研究需求 Castells, Mariana; Giannetti, Matthew P.; Hamilton, Matthew J.; Novak, Peter; Pozdnyakova, Olga; Nicoloro-SantaBarbara, Jennifer; Jennings, Susan V.; Francomano, Clair; Kim, Brian; Glover, Sarah C.; Galli, Stephen J.; Maitland, Anne; White, Andrew; Abonia, J. Pablo; Slee, Valerie; Valent, Peter; Butterfield, Joseph H.; Carter, Melody; Metcalfe, Dean D.; Akin, Cem; Lyons, Jonathan J.; Togias, Alkis; Wheatley, Lisa; Milner, Joshua D. 分享 收藏
Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease Devore, Stanley B.; Schuetz, Matthew; Alvey, Lauren; Lujan, Henry; Ochayon, David E.; Williams, Lindsey; Chang, Wan Chi; Filuta, Alyssa; Ruff, Brandy; Kothari, Arjun; Hahn, Jennifer M.; Brandt, Eric; Satish, Latha; Roskin, Krishna; Herr, Andrew B.; Biagini, Jocelyn M.; Martin, Lisa J.; Cagdas, Deniz; Keles, Sevgi; Milner, Joshua D.; Supp, Dorothy M.; Hershey, Gurjit K. Khurana 分享 收藏
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Soluble antigen arrays provide increased efficacy and safety over free peptides for tolerogenic immunotherapy Firdessa-Fite, Rebuma; Johnson, Stephanie N.; Genzano, Camillo Bechi; Leon, Martin A.; Ku, Amy; Gonzalez, Fernando A. Ocampo; Milner, Joshua D.; Sestak, Joshua O.; Berkland, Cory; Creusot, Remi J. 分享 收藏
Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens Walsh, Zachary H.; Shah, Parin; Kothapalli, Neeharika; Shah, Shivem B.; Nikolenyi, Gergo; Brodtman, D. Zack; Leuzzi, Giuseppe; Rogava, Meri; Mu, Michael; Ho, Patricia; Abuzaid, Sinan; Vasan, Neil; Alquraishi, Mohammed; Milner, Joshua D.; Ciccia, Alberto; Melms, Johannes C.; Izar, Benjamin 分享 收藏
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis (vol 221, e20232387, 2024) Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report McDonnell, John; Cousins, Kimberley; Younger, M. Elizabeth M.; Lane, Adam; Abolhassani, Hassan; Abraham, Roshini S.; Al-Tamemi, Salem; Aldave-Becerra, Juan Carlos; Al-Faris, Eman Hesham; Alfaro-Murillo, Alberto; Alkhater, Suzan A.; Alsaati, Nouf; Doss, Alexa Michelle Altman; Anderson, Melissa; Angarola, Ernestina; Ariue, Barbara; Arnold, Danielle E.; Assa'ad, Amal H.; Aytekin, Caner; Bank, Meaghan; Bergerson, Jenna R. E.; Bleesing, Jack; Boesing, John; Bouso, Carolina; Brodszki, Nicholas; Cabanillas, Diana; Cady, Carol; Callahan, Meghan A.; Caorsi, Roberta; Carbone, Javier; Carrabba, Maria; Castagnoli, Riccardo; Catanzaro, Jason R.; Chan, Samantha; Chandra, Sharat; Chapdelaine, Hugo; Chavoshzadeh, Zahra; Chong, Hey Jin; Connors, Lori; Consonni, Filippo; Correa-Jimenez, Oscar; Cunningham-Rundles, Charlotte; D'Astous-Gauthier, Katherine; Delmonte, Ottavia Maria; Demirdag, Yesim Yilmaz; Deshpande, Deepti R.; Diaz-Cabrera, Natalie M.; Dimitriades, Victoria R.; El-Owaidy, Rasha; Elghazali, Gehad; Al-Hammadi, Suleiman; Fabio, Giovanna; Faure, Astrid Schellnast; Feng, Jin; Fernandez, James M.; Fill, Lauren; Franco, Guacira R.; Frenck, Robert W.; Fuleihan, Ramsay L.; Giardino, Giuliana; Galant-Swafford, Jessica; Gambineri, Eleonora; Garabedian, Elizabeth K.; Geerlinks, Ashley V.; Goudouris, Ekaterini; Grecco, Octavio; Pan-Hammarstrom, Qiang; Khani, Hedieh Haji Khodaverdi; Hammarstrom, Lennart; Hartog, Nicholas L.; Heimall, Jennifer; Hernandez-Molina, Gabriela; Horner, Caroline C.; Hostoffer, Robert W.; Hristova, Nataliya; Hsiao, Kuang-Chih; Ivankovich-Escoto, Gabriela; Jaber, Faris; Jalil, Maaz; Jamee, Mahnaz; Jean, Tiffany; Jeong, Stephanie; Jhaveri, Devi; Jordan, Michael B.; Joshi, Avni Y.; Kalkat, Amanpreet; Kanarek, Henry J.; Kellner, Erinn S.; Khojah, Amer; Khoury, Ruby; Kokron, Cristina M.; Kumar, Ashish; Lecerf, Kelsey; Lehman, Heather K.; Leiding, Jennifer W.; Lesmana, Harry; Lim, Xin Rong; Lopes, Joao Pedro; Lopez, Ana Laura; Tarquini, Lucia; Lundgren, Ingrid S.; Magnusson, Julieann; Marinho, Ana Karolina B. B.; Marseglia, Gian Luigi; Martone, Giulia M.; Mechtler, Annamaria G.; Mendonca, Leonardo; Milner, Joshua D.; Mustillo, Peter J.; Naderi, Asal Gharib; Naviglio, Samuele; Nell, Jeremy; Niebur, Hana B.; Notarangelo, Luigi; Oleastro, Matias; Ortega-Lopez, Maria Claudia; Patel, Neil R.; Petrovic, Gordana; Pignata, Claudio; Porras, Oscar; Prince, Benjamin T.; Puck, Jennifer M.; Qamar, Nashmia; Rabusin, Marco; Raje, Nikita; Regairaz, Lorena; Risma, Kimberly A.; Ristagno, Elizabeth H.; Routes, John; Roxo-Junior, Persio; Salemi, Negin; Scalchunes, Christopher; Schuval, Susan J.; Seneviratne, Suranjith L.; Shankar, Ashwin; Sherkat, Roya; Shin, Junghee Jenny; Siddiqi, Abeer; Signa, Sara; Sobh, Ali; Lima, Fabiana Mascarenhas Souza; Stenehjem, Kristen K.; Tam, Jonathan S.; Tang, Monica; Barros, Myrthes Toledo; Verbsky, James; Vergadi, Eleni; Voelker, Dayne H.; Volpi, Stefano; Wall, Luke A.; Wang, Christine; Williams, Kelli W.; Wu, Eveline Y.; Wu, Shan Shan; Zhou, Jessie J.; Cook, Alexandria; Sullivan, Kathleen E.; Marsh, Rebecca 分享 收藏
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