IL-1 blockade in autoinflammatory syndromes von Jesus, Adriana A, Goldbach-Mansky, Raphaela

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Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome von Weiss, Eric S., Girard-Guyonvarc'h, Charlotte, Holzinger, Dirk, de Jesus, Adriana A., Tariq, Zeshan, Picarsic, Jennifer, Schiffrin, Eduardo J., Foell, Dirk, Grom, Alexei A., Ammann, Sandra, Ehl, Stephan, Hoshino, Tomoaki, Goldbach-Mansky, Raphaela, Gabay, Cem, Canna, Scott W.

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Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients von Kim, Hanna, Brooks, Kristina M., Tang, Cheng Cai, Wakim, Paul, Blake, Mary, Brooks, Stephen R., Montealegre Sanchez, Gina A., de Jesus, Adriana A., Huang, Yan, Tsai, Wanxia Li, Gadina, Massimo, Prakash, Apurva, Janes, Jonathan Marcus, Zhang, Xin, Macias, William L., Kumar, Parag, Goldbach‐Mansky, Raphaela

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The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Assoc... von Romano, 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., Jesus, Adriana A., Kuemmerle‐Deschner, Jasmin B., Ozen, Seza, Gattorno, Marco, Goldbach‐Mansky, Raphaela, Demirkaya, Erkan

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A clinical score to guide in decision making for monogenic type I IFNopathies von Sönmez, Hafize Emine, Karaaslan, Cagatay, de Jesus, Adriana A., Batu, Ezgi Deniz, Anlar, Banu, Sözeri, Betül, Bilginer, Yelda, Karaguzel, Dilara, Cagdas Ayvaz, Deniz, Tezcan, Ilhan, Goldbach-Mansky, Raphaela, Ozen, Seza

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Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene von Harper, Rebecca, Yu, Quan, Liu, Yangtenyu, Yang, Dan, Zou, Jizhong, Beers, Jeanette, de Jesus Rasheed, Adriana A, Goldbach-Mansky, Raphaela, Boehm, Manfred, Chen, Guibin

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Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene von Varea, Isabella, Joseph, Benjamin, Emmerich, Kevin, Manohar-Sindhu, Sahana, Zou, Jizhong, Friend, Kip, Tang, Xuming, Yang, Dan, de Jesus Rasheed, Adriana A, Goldbach-Mansky, Raphaela, Boehm, Manfred

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Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis von Bhuyan, Farzana, Jesus, Adriana A., Mitchell, Jacob, Leikina, Evgenia, VanTries, Rachel, Herzog, Ronit, Onel, Karen B., Oler, Andrew, Montealegre Sanchez, Gina A., Johnson, Kim A., Bichell, Lena, Marrero, Bernadette, De Castro, Luis Fernandez, Huang, Yan, Calvo, Katherine R., Collins, Michael T., Ganesan, Sundar, Chernomordik, Leonid V., Ferguson, Polly J., Goldbach‐Mansky, Raphaela

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Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy von Chia, Justin, MD, Eroglu, Fehime Kara, MD, MS, Özen, Seza, MD, Orhan, Dicle, MD, Montealegre-Sanchez, Gina, MD, MS, de Jesus, Adriana A., MD, PhD, Goldbach-Mansky, Raphaela, MD, MHSc, Cowen, Edward W., MD, MHSc

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Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation von Joseph, Benjamin, Varea, Isabella, Emmerich, Kevin, Manohar-Sindhu, Sahana, Zou, Jizhong, Friend, Kip, Sipwoli, Caleb, Tang, Xuming, Yang, Dan, de Jesus Rasheed, Adriana A, Goldbach-Mansky, Raphaela, Boehm, Manfred

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Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies von Kim, Hanna, Gunter-Rahman, Fatima, McGrath, John A, Lee, Esther, de Jesus, Adriana A, Targoff, Ira N, Huang, Yan, O'Hanlon, Terrance P, Tsai, Wanxia L, Gadina, Massimo, Miller, Frederick W, Goldbach-Mansky, Raphaela, Rider, Lisa G

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Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene von Mehta, Atul, Yu, Quan, Liu, Yangtengyu, Yang, Dan, Zou, Jizhong, Beers, Jeanette, de Jesus Rasheed, Adriana A, Rastegar, Andrew T., Goldbach-Mansky, Raphaela, Boehm, Manfred, Chen, Guibin

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Anakinra-Associated Amyloidosis von Alehashemi, Sara, Dasari, Surendra, de Jesus, Adriana A, Cowen, Edward W, Lee, Chia-Chia Richard, Goldbach-Mansky, Raphaela, McPhail, Ellen D

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Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype von Lee, Younglang, Wessel, Alex W, Xu, Jiazhi, Reinke, Julia G, Lee, Eries, Kim, Somin M, Hsu, Amy P, Zilberman-Rudenko, Jevgenia, Cao, Sha, Enos, Clinton, Brooks, Stephen R, Deng, Zuoming, Lin, Bin, de Jesus, Adriana A, Hupalo, Daniel N, Piotto, Daniela Gp, Terreri, Maria T, Dimitriades, Victoria R, Dalgard, Clifton L, Holland, Steven M, Goldbach-Mansky, Raphaela, Siegel, Richard M, Hanson, Eric P

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Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygou... von Yu, Quan, Mehta, Atul, Zou, Jizhong, Beers, Jeanette, de Jesus Rasheed, Adriana A, Goldbach-Mansky, Raphaela, Boehm, Manfred, Chen, Guibin

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Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN von Mendonca, Leonardo O., Malle, Louise, Donovan, Frank X., Chandrasekharappa, Settara C., Montealegre Sanchez, Gina A., Garg, Megha, Tedgard, Ulf, Castells, Mariana, Saini, Shiv S., Dutta, Sourabh, Goldbach-Mansky, Raphaela, Suri, Deepti, Jesus, Adriana A.

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Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS) von Papendorf, Jonas Johannes, Ebstein, Frédéric, Alehashemi, Sara, Piotto, Daniela Gerent Petry, Kozlova, Anna, Terreri, Maria Teresa, Shcherbina, Anna, Rastegar, Andre, Rodrigues, Marta, Pereira, Renan, Park, Sophia, Lin, Bin, Uss, Kat, Möller, Sophie, da Silva Pina, Ana Flávia, Sztajnbok, Flavio, Torreggiani, Sofia, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D, Oler, Andrew J, McNinch, Colton, de Guzman, Marietta M, Fonseca, Adriana, Micheloni, Nicole, Fraga, Melissa Mariti, Perazzio, Sandro Félix, Goldbach-Mansky, Raphaela, de Jesus, Adriana A, Krüger, Elke

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A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil von Jesus, Adriana A., Osman, Mazen, Silva, Clovis A., Kim, Peter W., Pham, Tuyet‐Hang, Gadina, Massimo, Yang, Barbara, Bertola, Débora R., Carneiro‐Sampaio, Magda, Ferguson, Polly J., Renshaw, Blair R., Schooley, Ken, Brown, Michael, Al‐Dosari, Asma, Al‐Alami, Jamil, Sims, John E., Goldbach‐Mansky, Raphaela, El‐Shanti, Hatem

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Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation von Lin, Bin, Torreggiani, Sofia, Kahle, Dana, Rumsey, Dax G, Wright, Benjamin L, Montes-Cano, Marco A, Silveira, Laura Fernandez, Alehashemi, Sara, Mitchell, Jacob, Aue, Alexander G, Ji, Zheng, Jin, Tengchuan, de Jesus, Adriana A, Goldbach-Mansky, Raphaela

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Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus von Goldbach-Mansky, Raphaela, Alehashemi, Sara, de Jesus, Adriana A.

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