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D

Daniel L. Kastner

national institutes of health

112H-index
436Paper Count
5.0WCitation Count
Published Papers 143
Publication Date
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Hepatic Manifestations and Response to Treatment in Deficiency of Adenosine Deaminase 2
errLiver International
IF5.2
err2026-05-04
err0
PREAI
errMohammed Rifat Shaik; Hawwa Alao; Nishat Anjum Shaik; Devika Kapuria; Harish Gopalakrishna; Ma Ai Thanda Han; Varun Takyar; Patrycja Hoffmann; Deborah Stone; Lorena Wilson; Ryan Videgar-Laird; Bernadette Redd; David E. Kleiner; Christopher Koh; Daniel L. Kastner; Dimana Dimitrova; Amanda K. Ombrello; Theo Heller
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Diagnostic implications and correlates of plasma ADA2 activity and ADA2 variants
errArthritis & Rheumatology
IF10.9
err2025-10-28
err0
errOAAI
errJian Yue; Courtney E. LeSon; Casey A. Rimland; Kailey Brodeur; Rachel Weng; Evan E. Hsu; Michael T. Lam; Manpreet Meyer; Seigo Okada; Andrew L. D. Hsu; Musaab A. Alhezam; Megan M. Perron; Olha Halyabar; Fatma Dedeoglu; Peter A. Nigrovic; Akiko Shimamura; R. Grant Rowe; Megan A. Cooper; Tiphanie P. Vogel; Miriah Gillispie-Taylor; Rosemary Peterson; Clara Lin; Katherine D. Nowicki; Kaylee Dollerschell; Taizo A. Nakano; Roxane Labrosse; Alexis-Virgil Cochino; Andreea Ioan; Leonardo Oliveira Mendonca; Samar Freschi Barros; Jorge Kalil; Javier Perez Rojas; Alicia Diaz Kuan; Eric S. Sobel; Taha Moussa; Samuel Shang Ming Lee; Li Wearn Koh; Archana Khan; Sodality Sutnga; Raju Khubchandani; Walaa Shoman; Yasmine El Chazli; Benzeeta Pinto; Chengappa Kavadichanda; Roshini S. Abraham; Xiangwei Sun; Qing Zhou; GSRSNK Naidu; Aman Sharma; Carl Esperanzate; Daniel L. Kastner; Ivona Aksentijevich; Susan J. Kelly; Michael Hershfield; Teresa K. Tarrant; Pui Y. Lee
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Genetic Regulation of Cell Death: Insights from Autoinflammatory Diseases
errANNUAL REVIEW OF IMMUNOLOGY
IF33.3
err2025-04-25
err0
PREAI
errOda, Hirotsugu; Annibaldi, Alessandro; Kastner, Daniel L.; Aksentijevich, Ivona
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Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types
errCELL GENOMICS
IF9
err2024-09-01
err2
errOAAI
errBlanton, Laura V.; San Roman, Adrianna K.; Wood, Geryl; Buscetta, Ashley; Banks, Nicole; Skaletsky, Helen; Godfrey, Alexander K.; Pham, Thao T.; Hughes, Jennifer F.; Brown, Laura G.; Kruszka, Paul; Lin, Angela E.; Kastner, Daniel L.; Muenke, Maximilian; Page, David C.
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A unified metric of human immune health
errNATURE MEDICINE
IF50
err2024-07-03
err3
errOAAI
errSparks, Rachel; Rachmaninoff, Nicholas; Lau, William W.; Hirsch, Dylan C.; Bansal, Neha; Martins, Andrew J.; Chen, Jinguo; Liu, Candace C.; Cheung, Foo; Failla, Laura E.; Biancotto, Angelique; Fantoni, Giovanna; Sellers, Brian A.; Chawla, Daniel G.; Howe, Katherine N.; Mostaghimi, Darius; Farmer, Rohit; Kotliarov, Yuri; Calvo, Katherine R.; Palmer, Cindy; Daub, Janine; Foruraghi, Ladan; Kreuzburg, Samantha; Treat, Jennifer D.; Urban, Amanda K.; Jones, Anne; Romeo, Tina; Deuitch, Natalie T.; Moura, Natalia Sampaio; Weinstein, Barbara; Moir, Susan; Ferrucci, Luigi; Barron, Karyl S.; Aksentijevich, Ivona; Kleinstein, Steven H.; Townsley, Danielle M.; Young, Neal S.; Frischmeyer-Guerrerio, Pamela A.; Uzel, Gulbu; Pinto-Patarroyo, Gineth Paola; Cudrici, Cornelia D.; Hoffmann, Patrycja; Stone, Deborah L.; Ombrello, Amanda K.; Freeman, Alexandra F.; Zerbe, Christa S.; Kastner, Daniel L.; Holland, Steven M.; Tsang, John S.
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Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
errNATURE IMMUNOLOGY
IF27.6
err2024-04-12
err3
PREAI
errOda, Hirotsugu; Manthiram, Kalpana; Chavan, Pallavi Pimpale; Rieser, Eva; Veli, Oenay; Kaya, Oeykue; Rauch, Charles; Nakabo, Shuichiro; Kuehn, Hye Sun; Swart, Mariel; Wang, Yanli; Celik, Nisa Ilgim; Molitor, Anne; Ziaee, Vahid; Movahedi, Nasim; Shahrooei, Mohammad; Parvaneh, Nima; Alipour-Olyei, Nasrin; Carapito, Raphael; Xu, Qin; Preite, Silvia; Beck, David B.; Chae, Jae Jin; Nehrebecky, Michele; Ombrello, Amanda K.; Hoffmann, Patrycja; Romeo, Tina; Deuitch, Natalie T.; Matthiasardottir, Brynja; Mullikin, James; Komarow, Hirsh; Stoddard, Jennifer; Niemela, Julie; Dobbs, Kerry; Sweeney, Colin L.; Anderton, Holly; Lawlor, Kate E.; Yoshitomi, Hiroyuki; Yang, Dan; Boehm, Manfred; Davis, Jeremy; Mudd, Pamela; Randazzo, Davide; Tsai, Wanxia Li; Gadina, Massimo; Kaplan, Mariana J.; Toguchida, Junya; Mayer, Christian T.; Rosenzweig, Sergio D.; Notarangelo, Luigi D.; Iwai, Kazuhiro; Silke, John; Schwartzberg, Pamela L.; Boisson, Bertrand; Casanova, Jean-Laurent; Bahram, Seiamak; Rao, Anand Prahalad; Peltzer, Nieves; Walczak, Henning; Lalaoui, Najoua; Aksentijevich, Ivona; Kastner, Daniel L.
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errSave
Autoinflammatory syndromes: Updates in management
errJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
err2024-01-01
err0
errOAAI
errBlackstone, Sarah A.; Kastner, Daniel L.; Broderick, Lori
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errSave
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and cells in VEXAS
errCELL REPORTS MEDICINE
IF10.6
err2023-08-01
err19
errOAAI
errWu, Zhijie; Gao, Shouguo; Gao, Qingyan; Patel, Bhavisha A.; Groarke, Emma M.; Feng, Xingmin; Manley, Ash Lee; Li, Haoran; Cardona, Daniela Ospina; Kajigaya, Sachiko; Alemu, Lemlem; Raffo, Diego Quinones; Ombrello, Amanda K.; Ferrada, Marcela A.; Grayson, Peter C.; Calvo, Katherine R.; Kastner, Daniel L.; Beck, David B.; Young, Neal S.
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errSave
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2023-06-15
err28
errOAAI
errBaghdassarian, Hratch; Blackstone, Sarah A.; Clay, Owen S.; Philips, Rachael; Matthiasardottir, Brynja; Nehrebecky, Michele; Hua, Vivian K.; McVicar, Rachael; Liu, Yang; Tucker, Suzanne M.; Randazzo, Davide; Deuitch, Natalie; Rosenzweig, Sofia; Mark, Adam; Sasik, Roman; Fisch, Kathleen M.; Pimpale Chavan, Pallavi; Eren, Elif; Watts, Norman R.; Ma, Chi A.; Gadina, Massimo; Schwartz, Daniella M.; Sanyal, Anwesha; Werner, Giffin; Murdock, David R.; Horita, Nobuyuki; Chowdhury, Shimul; Dimmock, David; Jepsen, Kristen; Remmers, Elaine F.; Goldbach-Mansky, Raphaela; Gahl, William A.; O'Shea, John J.; Milner, Joshua D.; Lewis, Nathan E.; Chang, Johanna; Kastner, Daniel L.; Torok, Kathryn; Oda, Hirotsugu; Putnam, Christopher D.; Broderick, Lori
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TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency A Case Series
errNEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
IF7.5
err2023-05-01
err2
errOAAI
errSoldatos, Ariane; Toro, Camilo; Hoffmann, Patrycja; Romeo, Tina; Deuitch, Natalie; Brofferio, Alessandra; Aksentijevich, Ivona; Kastner, Daniel L.; Ombrello, Amanda K.
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errSave
Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells
errJOURNAL OF IMMUNOLOGY
IF3.4
err2023-05-01
err1
errOAAI
errManthiram, Kalpana; Xu, Qin; Wu, Zhijie; Bowes, Mary; Gao, Shouguo; Oguz, Cihan; Elkahloun, Abdel; Kalsi, Shelley; Dulau-Florea, Alina; Romeo, Tina; Shi, Lihong; Cassini, Thomas; Deuitch, Natalie; Kirby, Martha; Anderson, Stacie; Bruns, Deborah; Ombrello, Amanda; Barron, Karyl; Remmers, Elaine; Donovan, Frank; Peterson, William; Cochran, Jill; Laxer, Ronald; Greenberg, Jessica; Zein, Wadih; Brooks, Brian; Perazzio, Sandro; Kone-Paut, Isabelle; Al-Mutiari, Nora; Thors, Valtyr Stefansson; Palmadottir, Johanna Guorun; Aeschlimann, Florence; Quartier, Pierre; Murphy, Karen; Chandrasekarappa, Settara; Torgerson, Troy; Schwartzberg, Pamela L.; Kastner, Daniel
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errSave
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF KB-Mediated Autoinflammatory Disease with Retinal Dystrophy
errOPHTHALMOLOGY
IF9.5
err2023-04-01
err10
errOAAI
errHuryn, Laryssa A.; Kozycki, Christina Torres; Serpen, Jasmine Y.; Zein, Wadih M.; Ullah, Ehsan; Iannaccone, Alessandro; Williams, Lloyd B.; Sobrin, Lucia; Brooks, Brian P.; Sen, H. Nida; Hufnagel, Robert B.; Kastner, Daniel L.; Kodati, Shilpa
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errSave
Case report: Novel variants in RELA associated with familial Behcet's-like disease
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2023-02-28
err11
errOAAI
errAn, Jason W.; Pimpale-Chavan, Pallavi; Stone, Deborah L.; Bandeira, Marcia; Dedeoglu, Fatma; Lo, Jeffrey; Bohnsack, John; Rosenzweig, Sofia; Schnappauf, Oskar; Dissanayake, Dilan; Hiraki, Linda T.; Kastner, Daniel L.; Pelajo, Christina; Laxer, Ronald M.; Aksentijevich, Ivona
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Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
errJAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
err2023-01-24
err103
errOAAI
errBeck, David B.; Bodian, Dale L.; Shah, Vandan; Mirshahi, Uyenlinh L.; Kim, Jung; Ding, Yi; Magaziner, Samuel J.; Strande, Natasha T.; Cantor, Anna; Haley, Jeremy S.; Cook, Adam; Hill, Wesley; Schwartz, Alan L.; Grayson, Peter C.; Ferrada, Marcela A.; Kastner, Daniel L.; Carey, David J.; Stewart, Douglas R.
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Galantamine attenuates autoinflammation in a mouse model of familial mediterranean fever
errMOLECULAR MEDICINE
IF6.4
err2022-12-09
err1
errOAAI
errMughrabi, Ibrahim T.; Ochani, Mahendar; Tanovic, Mirza; Wang, Ping; Diamond, Betty; Sherry, Barbara; Pavlov, Valentin A.; Ozen, Seza; Kastner, Daniel L.; Chae, Jae Jin; Al-Abed, Yousef
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errSave
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism
errCELL REPORTS
IF6.9
err2022-10-01
err14
errOAAI
errMagnotti, Flora; Chirita, Daria; Dalmon, Sarah; Martin, Amandine; Bronnec, Pauline; Sousa, Jeremy; Helynck, Olivier; Lee, Wonyong; Kastner, Daniel L.; Chae, Jae Jin; McDermott, Michael F.; Belot, Alexandre; Popoff, Michel; Seve, Pascal; Georgin-Lavialle, Sophie; Munier-Lehmann, Helene; Tu Anh Tran; De Langhe, Ellen; Wouters, Carine; Jamilloux, Yvan; Henry, Thomas
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errSave
VEXAS Syndrome and Disease Taxonomy in Rheumatology
errARTHRITIS & RHEUMATOLOGY
IF10.9
err2022-09-15
err14
errOAAI
errGrayson, Peter C.; Beck, David B.; Ferrada, Marcela A.; Nigrovic, Peter A.; Kastner, Daniel L.
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errSave
The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist
errARTHRITIS & RHEUMATOLOGY
IF10.9
err2022-05-27
err16
errOAAI
errRomano, Micol; Arici, Z. Serap; Piskin, David; Alehashemi, Sara; Aletaha, Daniel; Barron, Karyl; Benseler, Susanne; Berard, Roberta A.; Broderick, Lori; Dedeoglu, Fatma; Diebold, Michelle; Durrant, Karen; Ferguson, Polly; Foell, Dirk; Hausmann, Jonathan S.; Jones, Olcay Y.; Kastner, Daniel; Lachmann, Helen J.; Laxer, Ronald M.; Rivera, Dorelia; Ruperto, Nicola; Simon, Anna; Twilt, Marinka; Frenkel, Joost; Hoffman, Hal M.; de Jesus, Adriana A.; Kuemmerle-Deschner, Jasmin B.; Ozen, Seza; Gattorno, Marco; Goldbach-Mansky, Raphaela; Demirkaya, Erkan
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errSave
Disorders of ubiquitylation: unchained inflammation
errNATURE REVIEWS RHEUMATOLOGY
IF32.7
err2022-05-06
err63
errOAAI
errBeck, David B.; Werner, Achim; Kastner, Daniel L.; Aksentijevich, Ivona
errShare
errSave
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)
errJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
err2022-05-01
err27
PREAI
errDeuitch, Natalie T.; Yang, Dan; Lee, Pui Y.; Yu, Xiaomin; Moura, Natalia Sampaio; Schnappauf, Oskar; Ombrello, Amanda K.; Stone, Deborah; Kuehn, Hye Sun; Rosenzweig, Sergio D.; Hoffmann, Patrycja; Cudrici, Cornelia; Levy, Deborah M.; Kessler, Elizabeth; Soep, Jennifer B.; Hay, Arielle D.; Dalrymple, Austin; Zhang, Yu; Sun, Li; Zhang, Qiuye; Tang, Xuemei; Wu, Yuan; Rao, Koneti; Li, Haibo; Luo, Hong; Zhang, Yao; Burnham, Jon M.; Boehm, Manfred; Barron, Karyl; Kastner, Daniel L.; Aksentijevich, Ivona; Zhou, Qing
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Research Directions

No research directions
Co-authors
Cooperation Journals
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Peter Libby
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Mark J. Daly
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Charles A. Dinarello
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Mihai G. Netea
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Jerome I. Rotter
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