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1.
A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran
Kosar Asna Ashari, Nahid Aslani, Nima Parvaneh, Raheleh Assari, Morteza Heidari, Mohammadreza Fathi, Fatemeh Tahghighi Sharabian, Alireza Ronagh, Mohammad Shahrooei, Alireza Moafi, Nima Rezaei, Vahid Ziaee
Pediatr Rheumatol Online J. 2023; 21: 55. Published online 2023 Jun 13. doi: 10.1186/s12969-023-00838-3
PMCID:
PMC10265890
AbstractArticlePDF–799K
2.
A Cohort Study on Deficiency of ADA2 from China
Guo-min Li, Xu Han, Ye Wu, Wei Wang, Hong-xia Tang, Mei-ping Lu, Xue-mei Tang, Yi Lin, Fan Deng, Jun Yang, Xin-ning Wang, Cong-cong Liu, Wen-jie Zheng, Bing-bing Wu, Fang Zhou, Hong Luo, Liang Zhang, Hai-mei Liu, Wan-zhen Guan, Shi-hao Wang, Pan-feng Tao, Tai-jie Jin, Ran Fang, Yuan Wu, Jie Zhang, Yao Zhang, Tian-nan Zhang, Wei Yin, Li Guo, Wen-jing Tang, Hong Chang, Qiu-ye Zhang, Xiao-zhong Li, Jian-guo Li, Zhi-xuan Zhou, Si-rui Yang, Kang-kang Yang, Hong Xu, Hong-mei Song, Natalie T. Deuitch, Pui Y. Lee, Qing Zhou, Li Sun
J Clin Immunol. 2023; 43(4): 835–845. Published online 2023 Feb 18. doi: 10.1007/s10875-023-01432-8
PMCID:
PMC10110724
AbstractArticlePDF–993K
3.
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2
Oskar Schnappauf, Natalia Sampaio Moura, Ivona Aksentijevich, Monique Stoffels, Amanda K. Ombrello, Patrycja Hoffmann, Karyl Barron, Elaine F. Remmers, Michael Hershfield, Susan J. Kelly, NISC Comparative Sequencing Program, David Cuthbertson, Simon Carette, Sharon A. Chung, Lindsy Forbess, Nader A. Khalidi, Curry L. Koening, Carol A. Langford, Carol A. McAlear, Paul A. Monach, Larry Moreland, Christian Pagnoux, Philip Seo, Jason M. Springer, Antoine G. Sreih, Kenneth J. Warrington, Steven R. Ytterberg, Daniel L. Kastner, Peter C. Grayson, Peter A. Merkel, Vasculitis Clinical Research Consortium
Arthritis Rheumatol. Author manuscript; available in PMC 2023 Feb 22.
Published in final edited form as: Arthritis Rheumatol. 2021 Mar; 73(3): 512–519. Published online 2021 Feb 3. doi: 10.1002/art.41549
PMCID:
PMC9945880
AbstractArticlePDF–250K
4.
Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity
Sara Signa, Arinna Bertoni, Federica Penco, Roberta Caorsi, Alessia Cafaro, Giuliana Cangemi, Stefano Volpi, Marco Gattorno, Francesca Schena
Front Immunol. 2022; 13: 935957. Published online 2022 Jul 11. doi: 10.3389/fimmu.2022.935957
PMCID:
PMC9309328
AbstractArticlePDF–1.5M
5.
Deficiency of Human Adenosine Deaminase Type 2 – A Diagnostic Conundrum for the Hematologist
Rakesh Kumar Pilania, Aaqib Zaffar Banday, Saniya Sharma, Rajni Kumrah, Vibhu Joshi, Sathish Loganathan, Manpreet Dhaliwal, Ankur Kumar Jindal, Pandiarajan Vignesh, Deepti Suri, Amit Rawat, Surjit Singh
Front Immunol. 2022; 13: 869570. Published online 2022 May 3. doi: 10.3389/fimmu.2022.869570
PMCID:
PMC9110783
AbstractArticlePDF–2.6M
6.
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello
Front Immunol. 2021; 12: 811473. Published online 2022 Jan 10. doi: 10.3389/fimmu.2021.811473
PMCID:
PMC8790931
AbstractArticlePDF–9.0M
7.
Adenosine deaminase 2 produced by infiltrative monocytes promotes liver fibrosis in nonalcoholic fatty liver disease
Shilpa Tiwari-Heckler, Eric U. Yee, Yusuf Yalcin, Jiwoon Park, Duc-Huy T. Nguyen, Wenda Gao, Eva Csizmadia, Nezam Afdhal, Kenneth J. Mukamal, Simon C. Robson, Michelle Lai, Robert E. Schwartz, Z. Gordon Jiang
Cell Rep. Author manuscript; available in PMC 2021 Nov 21.
Published in final edited form as: Cell Rep. 2021 Oct 26; 37(4): 109897. doi: 10.1016/j.celrep.2021.109897
PMCID:
PMC8606247
AbstractArticlePDF–2.0M
8.
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure
Gianluca Dell’Orso, Alice Grossi, Federica Penco, Roberta Caorsi, Elena Palmisani, Paola Terranova, Francesca Schena, Michela Lupia, Erica Ricci, Shana Montalto, Filomena Pierri, Isabella Ceccherini, Francesca Fioredda, Carlo Dufour, Marco Gattorno, Maurizio Miano
Front Immunol. 2021; 12: 754029. Published online 2021 Oct 14. doi: 10.3389/fimmu.2021.754029
PMCID:
PMC8552009
AbstractArticlePDF–529K
9.
A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype
Silvia Vai, Erika Marin, Roberta Cosso, Francesco Saettini, Sonia Bonanomi, Alessandro Cattoni, Iacopo Chiodini, Luca Persani, Alberto Falchetti
Int J Mol Sci. 2021 Aug; 22(15): 8331. Published online 2021 Aug 3. doi: 10.3390/ijms22158331
PMCID:
PMC8348276
AbstractArticlePDF–2.9M
10.
Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces
Pallavi Pimpale Chavan, Divya Ramadoss, Archana Khan, Pui Y. Lee, Raju Khubchandani
Indian J Pediatr. 2021; 88(8): 828–830. Published online 2021 May 31. doi: 10.1007/s12098-021-03809-2
PMCID:
PMC8165502
ArticlePDF–146K
11.
Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings
Li Guo, Jun Wang, Xinghui Yang, Rongjun Zheng, Natalie Deuitch, Panfeng Tao, Qing Zhou
J Clin Immunol. 2021; 41(4): 837–842. Published online 2021 Jan 30. doi: 10.1007/s10875-021-00981-0
PMCID:
PMC8068658
ArticlePDF–788K
12.
Macrophage-Derived Adenosine Deaminase 2 Correlates with M2 Macrophage Phenotype in Triple Negative Breast Cancer
Barbara Kutryb-Zajac, Gabriela Harasim, Agata Jedrzejewska, Oliwia Krol, Alicja Braczko, Patrycja Jablonska, Paulina Mierzejewska, Jacek Zielinski, Ewa M. Slominska, Ryszard. T. Smolenski
Int J Mol Sci. 2021 Apr; 22(7): 3764. Published online 2021 Apr 5. doi: 10.3390/ijms22073764
PMCID:
PMC8038600
AbstractArticlePDF–5.3M
13.
Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance
Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, Deborah L. Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T. Bjornsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich
J Clin Immunol. Author manuscript; available in PMC 2021 Aug 1.
Published in final edited form as: J Clin Immunol. 2020 Aug; 40(6): 917–926. Published online 2020 Jul 8. doi: 10.1007/s10875-020-00817-3
PMCID:
PMC7416912
AbstractArticlePDF–1.1M
14.
Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach
Maria I. Zervou, George N. Goulielmos, Michail Matalliotakis, Charoula Matalliotaki, Demetrios A. Spandidos, Elias Eliopoulos
Mol Med Rep. 2020 Feb; 21(2): 876–882. Published online 2019 Dec 5. doi: 10.3892/mmr.2019.10862
Correction in:
Mol Med Rep. 2021 Jul; 24(1): 489.
PMCID:
PMC6947897
AbstractArticlePDF–1.2M
15.
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2
Carmelo Carmona-Rivera, Sami S. Khaznadar, Kyawt W. Shwin, Jorge A. Irizarry-Caro, Liam J. O’Neil, Yudong Liu, Kenneth A. Jacobson, Amanda K. Ombrello, Deborah L. Stone, Wanxia L. Tsai, Daniel L. Kastner, Ivona Aksentijevich, Mariana J. Kaplan, Peter C. Grayson
Blood. 2019 Jul 25; 134(4): 395–406. Prepublished online 2019 Apr 23. doi: 10.1182/blood.2018892752
PMCID:
PMC6659253
AbstractArticle
16.
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2
Pui Y. Lee, Yuelong Huang, Qing Zhou, Oskar Schnappauf, Michael S. Hershfield, Ying Li, Nancy J. Ganson, Natalia Sampaio Moura, Ottavia M. Delmonte, Scellig S. Stone, Michael J. Rivkin, Sung-Yun Pai, Todd Lyons, Robert P. Sundel, Victor W. Hsu, Luigi D. Notarangelo, Ivona Aksentijevich, Peter A. Nigrovic
J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: J Allergy Clin Immunol. 2018 Oct; 142(4): 1363–1365.e8. Published online 2018 Jun 21. doi: 10.1016/j.jaci.2018.05.038
PMCID:
PMC6175612
AbstractArticlePDF–414K
17.
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel-Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin-Lavialle, Alexandre Belot, Isabelle Koné-Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay
Eur J Hum Genet. 2018 Jul; 26(7): 960–971. Published online 2018 Apr 23. doi: 10.1038/s41431-018-0130-6
PMCID:
PMC6018671
AbstractArticlePDF–1018K
18.
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2
Hasan Hashem, Ashish R. Kumar, Ingo Müller, Florian Babor, Robbert Bredius, Jignesh Dalal, Amy P. Hsu, Steven M. Holland, Dennis D. Hickstein, Stephen Jolles, Robert Krance, Ghadir Sasa, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Joris van Montfrans, Keith Wilson, Barbara Bosch, Leen Moens, Michael Hershfield, Isabelle Meyts
Blood. 2017 Dec 14; 130(24): 2682–2688. Prepublished online 2017 Oct 3. doi: 10.1182/blood-2017-07-798660
PMCID:
PMC5731089
AbstractArticle
19.
CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma
C Zhu, I Chrifi, D Mustafa, M van der Weiden, P J M Leenen, D J Duncker, J M Kros, C Cheng
Oncogene. 2017 Sep 21; 36(38): 5356–5368. Published online 2017 May 22. doi: 10.1038/onc.2017.145
PMCID:
PMC5611481
AbstractArticlePDF–6.9M
20.
Activation of CECR1 in M2-like TAMs promotes paracrine stimulation-mediated glial tumor progression
Changbin Zhu, Dana Mustafa, Ping-pin Zheng, Marcel van der Weiden, Andrea Sacchetti, Maarten Brandt, Ihsan Chrifi, Dennie Tempel, Pieter J. M. Leenen, Dirk Jan Duncker, Caroline Cheng, Johan M. Kros
Neuro Oncol. 2017 May; 19(5): 648–659. Published online 2017 Jan 4. doi: 10.1093/neuonc/now251
PMCID:
PMC5464467
AbstractArticlePDF–70M

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