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Select item 110266291.

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist

Elena Urbaneja, Nuria Bonet, Manuel Solis-Moruno, Anna Mensa-Vilaro, Iñaki Ortiz de Landazuri, Marc Tormo, Rocio Lara, Susana Plaza, Virginia Fabregat, Jordi Yagüe, Ferran Casals, Juan I. Arostegui

Front Immunol. 2024; 15: 1381447. Published online 2024 Apr 5. doi: 10.3389/fimmu.2024.1381447

PMCID:: PMC11026629

Abstract Article PDF–1.1M

Select item 74396772.

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

Leonardo Oliveira Mendonça, Alice Grossi, Francesco Caroli, Robson Aguiar de Oliveira, Jorge Kalil, Fabio Fernandes Morato Castro, Alessandra Pontillo, Isabella Ceccherini, Myrthes Anna Maragna Toledo Barros, Marco Gattorno

Pediatr Rheumatol Online J. 2020; 18: 67. Published online 2020 Aug 20. doi: 10.1186/s12969-020-00454-5

PMCID:: PMC7439677

Abstract Article PDF–903K

Select item 108887123.

Analysis of Anakinra Therapy for the Deficiency of Interleukin-1 Receptor Antagonist through Clinical Evidence

Kathryn Pillai, Joshua Pillai, Jun Ling

J Clin Med. 2024 Feb; 13(4): 1026. Published online 2024 Feb 10. doi: 10.3390/jcm13041026

PMCID:: PMC10888712

Abstract Article PDF–810K

Select item 66993254.

Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy

Necil Kutukculer, Anne Puel, Sanem Eren Akarcan, Kunihiko Moriya, Neslihan Edeer Karaca, Melanie Migaud, Jean-Laurent Casanova, Guzide Aksu

Case Reports Immunol. 2019; 2019: 1902817. Published online 2019 Aug 4. doi: 10.1155/2019/1902817

PMCID:: PMC6699325

Abstract Article PDF–1.6M

Select item 106226815.

Accuracy of generative artificial intelligence models in differential diagnoses of familial Mediterranean fever and deficiency of Interleukin-1 receptor antagonist

Joshua Pillai, Kathryn Pillai

J Transl Autoimmun. 2023 Dec; 7: 100213. Published online 2023 Oct 14. doi: 10.1016/j.jtauto.2023.100213

PMCID:: PMC10622681

Abstract Article PDF–1.9M

Select item 104216806.

Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians

Andrea Rivera-Sepulveda, Francisco Colón-Fontánez, Maricarmen López, Gilberto Puig-Ramos

J Pediatr Genet. 2023 Sep; 12(3): 227–232. Published online 2021 Mar 3. doi: 10.1055/s-0041-1724113

PMCID:: PMC10421680

Abstract Article PDF–1.6M

Select item 35480197.

DEFICIENCY OF INTERLEUKIN-1 RECEPTOR ANTAGONIST RESPONSIVE TO ANAKINRA

CHARLOTTE SCHNELLBACHER, GIOVANNA CIOCCA, ROXANNA MENENDEZ, IVONA AKSENTIJEVICH, RAPHAELA GOLDBACH-MANSKY, ANAM. DUARTE, RAFAEL RIVAS-CHACON

Pediatr Dermatol. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Pediatr Dermatol. 2013 Nov; 30(6): 10.1111/j.1525-1470.2012.01725.x. Published online 2012 Apr 4. doi: 10.1111/j.1525-1470.2012.01725.x

PMCID:: PMC3548019

Abstract Article PDF–381K

Select item 34638678.

A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil

Adriana A. Jesus, Mazen Osman, Clovis A. Silva, Peter W. Kim, Tuyet-Hang Pham, Massimo Gadina, Barbara Yang, Débora R. Bertola, Magda Carneiro-Sampaio, Polly J. Ferguson, Blair R. Renshaw, Ken Schooley, Michael Brown, Asma Al-Dosari, Jamil Al-Alami, John E. Sims, Raphaela Goldbach-Mansky, Hatem El-Shanti

Arthritis Rheum. Author manuscript; available in PMC 2012 Oct 4.

Published in final edited form as: Arthritis Rheum. 2011 Dec; 63(12): 4007–4017. doi: 10.1002/art.30588

PMCID:: PMC3463867

Abstract Article PDF–1.5M

Select item 84209719.

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN

Leonardo O. Mendonca, Louise Malle, Frank X. Donovan, Settara C. Chandrasekharappa, Gina A. Montealegre Sanchez, Megha Garg, Ulf Tedgard, Mariana Castells, Shiv S. Saini, Sourabh Dutta, Raphaela Goldbach-Mansky, Deepti Suri, Adriana A. Jesus

J Clin Immunol. Author manuscript; available in PMC 2021 Sep 6.

Published in final edited form as: J Clin Immunol. 2017 Jul; 37(5): 445–451. Published online 2017 May 15. doi: 10.1007/s10875-017-0399-1

PMCID:: PMC8420971

Abstract Article PDF–633K

Select item 961592710.

DiRA: Discriminative, Restorative, and Adversarial Learning for Self-supervised Medical Image Analysis

Fatemeh Haghighi, Mohammad Reza Hosseinzadeh Taher, Michael B. Gotway, Jianming Liang

Proc IEEE Comput Soc Conf Comput Vis Pattern Recognit. Author manuscript; available in PMC 2022 Oct 28.

Published in final edited form as: Proc IEEE Comput Soc Conf Comput Vis Pattern Recognit. 2022 Jun; 2022: 20792–20802. Published online 2022 Sep 27. doi: 10.1109/cvpr52688.2022.02016

PMCID:: PMC9615927

Abstract Article PDF–1.8M

Select item 705064011.

Drug-induced Rhabdomyolysis Atlas (DIRA) for Idiosyncratic Adverse Drug Reaction Management

Zhining Wen, Yu Liang, Yingyi Hao, Brian Delavan, Ruili Huang, Mike Mikailov, Weida Tong, Menglong Li, Zhichao Liu

Drug Discov Today. Author manuscript; available in PMC 2020 Mar 2.

Published in final edited form as: Drug Discov Today. 2019 Jan; 24(1): 9–15. Published online 2018 Jun 11. doi: 10.1016/j.drudis.2018.06.006

PMCID:: PMC7050640

Abstract Article PDF–309K

Select item 953190612.

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 Intereukin-1 Receptor Antagonist

Micol Romano, Z. Serap Arici, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl Barron, Susanne Benseler, Roberta Berard, Lori Broderick, Fatma Dedeoglu, Michelle Diebold, Karen Durrant, Polly Ferguson, Dirk Foell, Jonathan S. Hausmann, Olcay Y. Jones, Daniel Kastner, Helen Lachmann, Ronald M. Laxer, Dorelia Rivera, Nicola Ruperto, Anna Simon, Marinka Twilt, Joost Frenkel, Hal M. Hoffman, Adriana A. de Jesus, Jasmin B. Kuemmerle-Deschner, Seza Ozen, Marco Gattorno, Raphaela Goldbach-Mansky, Erkan Demirkaya

Arthritis Rheumatol. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Arthritis Rheumatol. 2022 Jul; 74(7): 1102–1121. Published online 2022 May 27. doi: 10.1002/art.42139

PMCID:: PMC9531906

Abstract Article PDF–450K

Select item 850747013.

OPTIMAL SELECTION OF BASE MATERIALS FOR ACCURATE DUAL-ENERGY COMPUTED TOMOGRAPHY: COMPARISON BETWEEN THE ALVAREZ–MACOVSKI METHOD AND DIRA

Maria Magnusson, Gudrun Alm Carlsson, Michael Sandborg, Åsa Carlsson Tedgren, Alexandr Malusek

Radiat Prot Dosimetry. 2021 Oct; 195(3-4): 218–224. Published online 2021 Jul 8. doi: 10.1093/rpd/ncab097

PMCID:: PMC8507470

Abstract Article PDF–776K

Select item 850744814.

ACCURACY OF CT NUMBERS OBTAINED BY DIRA AND MONOENERGETIC PLUS ALGORITHMS IN DUAL-ENERGY COMPUTED TOMOGRAPHY

Maria Magnusson, Michael Sandborg, Gudrun Alm Carlsson, Lilian Henriksson, Åsa Carlsson Tedgren, Alexandr Malusek

Radiat Prot Dosimetry. 2021 Oct; 195(3-4): 212–217. Published online 2021 Jul 16. doi: 10.1093/rpd/ncab108

PMCID:: PMC8507448

Abstract Article PDF–676K

Select item 449580115.

Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report

Ezgi Ulusoy, Neslihan Edeer Karaca, Hatem El-Shanti, Erhan Kilicoglu, Guzide Aksu, Necil Kutukculer

J Med Case Rep. 2015; 9: 145. Published online 2015 Jun 23. doi: 10.1186/s13256-015-0618-4

PMCID:: PMC4495801

Abstract Article PDF–644K

Select item 617608916.

Paving the Way to Eureka—Introducing “Dira” as an Experimental Paradigm to Observe the Process of Creative Problem Solving

Frank Loesche, Jeremy Goslin, Guido Bugmann

Front Psychol. 2018; 9: 1773. Published online 2018 Oct 2. doi: 10.3389/fpsyg.2018.01773

PMCID:: PMC6176089

Abstract Article PDF–2.5M

Select item 626112117.

Scoping Review on Use of Drugs Targeting Interleukin 1 Pathway in DIRA and DITRA

Francisco Gómez-García, Juan L. Sanz-Cabanillas, Isabel Viguera-Guerra, Beatriz Isla-Tejera, Antonio Vélez-García Nieto, Juan Ruano

Dermatol Ther (Heidelb) 2018 Dec; 8(4): 539–556. Published online 2018 Nov 3. doi: 10.1007/s13555-018-0269-7

PMCID:: PMC6261121

Abstract Article PDF–574K

Select item 287687718.

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson, Paul Dancey, Joost Frenkel, Annet van Royen-Kerkhoff, Ron Laxer, Ulf Tedgård, Edward W. Cowen, Tuyet-Hang Pham, Matthew Booty, Jacob D. Estes, Netanya G. Sandler, Nicole Plass, Deborah L. Stone, Maria L. Turner, Suvimol Hill, John A. Butman, Rayfel Schneider, Paul Babyn, Hatem I. El-Shanti, Elena Pope, Karyl Barron, Xinyu Bing, Arian Laurence, Chyi-Chia R. Lee, Dawn Chapelle, Gillian I. Clarke, Kamal Ohson, Marc Nicholson, Massimo Gadina, Barbara Yang, Benjamin D. Korman, Peter K. Gregersen, P. Martin van Hagen, A. Elisabeth Hak, Marjan Huizing, Proton Rahman, Daniel C. Douek, Elaine F. Remmers, Daniel L. Kastner, Raphaela Goldbach-Mansky

N Engl J Med. Author manuscript; available in PMC 2010 Jun 4.

Published in final edited form as: N Engl J Med. 2009 Jun 4; 360(23): 2426–2437. doi: 10.1056/NEJMoa0807865

PMCID:: PMC2876877

Abstract Article PDF–1.3M

Select item 347484819.

Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis

Dr Kira Minkis, Dr Ivona Aksentijevich, Dr Raphaela Goldbach-Mansky, Dr Cynthia Magro, Dr Rachelle Scott, Dr Jessica G. Davis, Dr Niti Sardana, Dr Ronit Herzog

Arch Dermatol. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: Arch Dermatol. 2012 Jun; 148(6): 747–752. doi: 10.1001/archdermatol.2011.3208

PMCID:: PMC3474848

Abstract Article PDF–1.3M

Select item 179739720.

Substrate Specificity of the Escherichia coli Outer Membrane Protease OmpP

Bum-Yeol Hwang, Navin Varadarajan, Haixin Li, Sarah Rodriguez, Brent L. Iverson, George Georgiou

J Bacteriol. 2007 Jan; 189(2): 522–530. Published online 2006 Nov 3. doi: 10.1128/JB.01493-06

PMCID:: PMC1797397

Abstract Article PDF–402K

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