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Items: 1 to 20 of 38

1.

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.

Rowczenio DM, Gomes SM, Aróstegui JI, Mensa-Vilaro A, Omoyinmi E, Trojer H, Baginska A, Baroja-Mazo A, Pelegrin P, Savic S, Lane T, Williams R, Brogan P, Lachmann HJ, Hawkins PN.

Front Immunol. 2017 Oct 31;8:1410. doi: 10.3389/fimmu.2017.01410. eCollection 2017.

2.

Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy.

Watanabe M, Nishikomori R, Fujimaki Y, Heike T, Ohara A, Saji T.

Clin Case Rep. 2017 Sep 12;5(11):1750-1755. doi: 10.1002/ccr3.1149. eCollection 2017 Nov.

3.

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M, Oda H, Nakagawa K, Yasumi T, Kawai T, Izawa K, Nishikomori R, Heike T, Ohara O.

Biochem Biophys Rep. 2016 Dec 23;9:146-152. doi: 10.1016/j.bbrep.2016.12.002. eCollection 2017 Mar.

4.

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ.

Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):E7766-E7775. doi: 10.1073/pnas.1702946114. Epub 2017 Aug 28.

5.

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA.

PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017.

6.

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.

McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM; Brain Somatic Mosaicism Network.

Science. 2017 Apr 28;356(6336). pii: eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Review.

7.

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D, Bonatti F, Mozzoni P, Vaglio A, Percesepe A.

Front Immunol. 2017 Apr 3;8:344. doi: 10.3389/fimmu.2017.00344. eCollection 2017. Review.

8.

Genetic and Epigenetic Determinants in Autoinflammatory Diseases.

Álvarez-Errico D, Vento-Tormo R, Ballestar E.

Front Immunol. 2017 Mar 22;8:318. doi: 10.3389/fimmu.2017.00318. eCollection 2017. Review.

9.

The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.

de Torre-Minguela C, Mesa Del Castillo P, Pelegrín P.

Front Immunol. 2017 Jan 27;8:43. doi: 10.3389/fimmu.2017.00043. eCollection 2017. Review.

10.

Cerebrospinal Fluid Cytokines Correlate With Aseptic Meningitis and Blood-Brain Barrier Function in Neonatal-Onset Multisystem Inflammatory Disease: Central Nervous System Biomarkers in Neonatal-Onset Multisystem Inflammatory Disease Correlate With Central Nervous System Inflammation.

Rodriguez-Smith J, Lin YC, Tsai WL, Kim H, Montealegre-Sanchez G, Chapelle D, Huang Y, Sibley CH, Gadina M, Wesley R, Bielekova B, Goldbach-Mansky R.

Arthritis Rheumatol. 2017 Jun;69(6):1325-1336. doi: 10.1002/art.40055. Epub 2017 May 10.

PMID:
28118536
11.

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.

Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M.

Orphanet J Rare Dis. 2016 Dec 7;11(1):167. Review.

12.

Editorial: It Just Takes One: Somatic Mosaicism in Autoinflammatory Disease.

Hoffman HM, Broderick L.

Arthritis Rheumatol. 2017 Feb;69(2):253-256. doi: 10.1002/art.39961. No abstract available.

13.

Genetically defined autoinflammatory diseases.

de Jesus AA, Goldbach-Mansky R.

Oral Dis. 2016 Oct;22(7):591-604. doi: 10.1111/odi.12448. Epub 2016 Apr 14. Review.

14.
15.

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.

Shinar Y, Tohami T, Livneh A, Schiby G, Hirshberg A, Nagar M, Goldstein I, Cohen R, Kukuy O, Shubman O, Sharabi Y, Gonzalez-Roca E, Arostegui JI, Rechavi G, Amariglio N, Salomon O.

Orphanet J Rare Dis. 2015 Jun 30;10:86. doi: 10.1186/s13023-015-0298-6.

16.

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.

Arthritis Rheumatol. 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190.

17.

Schnitzler's syndrome: lessons from 281 cases.

de Koning HD.

Clin Transl Allergy. 2014 Dec 5;4:41. doi: 10.1186/2045-7022-4-41. eCollection 2014. Review.

18.

Familial Mediterranean fever without MEFV mutations: a case-control study.

Ben-Zvi I, Herskovizh C, Kukuy O, Kassel Y, Grossman C, Livneh A.

Orphanet J Rare Dis. 2015 Mar 25;10:34. doi: 10.1186/s13023-015-0252-7.

19.

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A.

Pediatr Rheumatol Online J. 2015 Apr 10;13:11. doi: 10.1186/s12969-015-0006-z. eCollection 2015.

20.

Role of genetic alterations in the NLRP3 and CARD8 genes in health and disease.

Paramel GV, Sirsjö A, Fransén K.

Mediators Inflamm. 2015;2015:846782. doi: 10.1155/2015/846782. Epub 2015 Feb 18. Review.

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