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Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Meyts I, Aksentijevich I. Meyts I, et al. Among authors: aksentijevich i. J Clin Immunol. 2018 Jul;38(5):569-578. doi: 10.1007/s10875-018-0525-8. Epub 2018 Jun 27. J Clin Immunol. 2018. PMID: 29951947 Free PMC article. Review.
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I, Kastner DL. Aksentijevich I, et al. Nat Rev Rheumatol. 2011 Jul 5;7(8):469-78. doi: 10.1038/nrrheum.2011.94. Nat Rev Rheumatol. 2011. PMID: 21727933 Review.
Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.
Aksentijevich I. Aksentijevich I. Semin Immunopathol. 2015 Jul;37(4):395-401. doi: 10.1007/s00281-015-0478-4. Epub 2015 Apr 10. Semin Immunopathol. 2015. PMID: 25860799 Review.
Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.
Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK. Zhou Q, et al. Among authors: aksentijevich i. Arthritis Rheumatol. 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190. Arthritis Rheumatol. 2015. PMID: 25988971 Free PMC article.
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J. Holzinger D, et al. Among authors: aksentijevich i. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27. J Allergy Clin Immunol. 2015. PMID: 26025129 Free PMC article.
A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.
Batu ED, Karadag O, Taskiran EZ, Kalyoncu U, Aksentijevich I, Alikasifoglu M, Özen S. Batu ED, et al. Among authors: aksentijevich i. J Rheumatol. 2015 Aug;42(8):1532-4. doi: 10.3899/jrheum.150024. J Rheumatol. 2015. PMID: 26233953 No abstract available.
NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.
Aksentijevich I, Zhou Q. Aksentijevich I, et al. Front Immunol. 2017 Apr 19;8:399. doi: 10.3389/fimmu.2017.00399. eCollection 2017. Front Immunol. 2017. PMID: 28469620 Free PMC article. Review.
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizzi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: aksentijevich i. Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi: 10.1136/annrheumdis-2016-210802. Epub 2017 May 18. Ann Rheum Dis. 2017. PMID: 28522451
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. Manthiram K, et al. Among authors: aksentijevich i. Nat Immunol. 2017 Jul 19;18(8):832-842. doi: 10.1038/ni.3777. Nat Immunol. 2017. PMID: 28722725 Review.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P. Franco-Jarava C, et al. Among authors: aksentijevich i. Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Clin Immunol. 2018. PMID: 29572183
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