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Items: 1 to 20 of 145

1.

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.

Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T.

Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512.

PMID:
21702021
2.

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.

Aróstegui JI, Lopez Saldaña MD, Pascal M, Clemente D, Aymerich M, Balaguer F, Goel A, Fournier del Castillo C, Rius J, Plaza S, López Robledillo JC, Juan M, Ibañez M, Yagüe J.

Arthritis Rheum. 2010 Apr;62(4):1158-66. doi: 10.1002/art.27342.

PMID:
20131270
3.

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI.

Ann Rheum Dis. 2015 Mar;74(3):603-10. doi: 10.1136/annrheumdis-2013-204361. Epub 2013 Dec 10.

PMID:
24326009
4.

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.

Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O.

DNA Res. 2012 Apr;19(2):143-52. doi: 10.1093/dnares/dsr047. Epub 2012 Jan 24.

PMID:
22279087
5.

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

Omoyinmi E, Melo Gomes S, Standing A, Rowczenio DM, Eleftheriou D, Klein N, Aróstegui JI, Lachmann HJ, Hawkins PN, Brogan PA.

Arthritis Rheumatol. 2014 Jan;66(1):197-202. doi: 10.1002/art.38217.

PMID:
24431285
6.

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G, Grandemange S, Touitou I.

Expert Rev Clin Immunol. 2015;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15. Review.

PMID:
25979514
7.

Current status of understanding the pathogenesis and management of patients with NOMID/CINCA.

Goldbach-Mansky R.

Curr Rheumatol Rep. 2011 Apr;13(2):123-31. doi: 10.1007/s11926-011-0165-y. Review.

PMID:
21538043
8.

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R.

Arthritis Rheum. 2002 Dec;46(12):3340-8.

PMID:
12483741
9.

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.

Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Sato-Otsubo A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK.

Blood. 2012 Aug 9;120(6):1299-308. doi: 10.1182/blood-2012-03-417881. Epub 2012 Jun 21.

PMID:
22723549
10.

Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome.

Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, Tardieu M, Prieur AM, Quartier P.

Arthritis Rheum. 2010 Jan;62(1):258-67. doi: 10.1002/art.25057.

PMID:
20039428
11.

Neonatal treatment of CINCA syndrome.

Paccaud Y, Berthet G, Von Scheven-Gête A, Vaudaux B, Mivelaz Y, Hofer M, Roth-Kleiner M.

Pediatr Rheumatol Online J. 2014 Dec 15;12:52. doi: 10.1186/1546-0096-12-52. eCollection 2014.

PMID:
25584041
12.

CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.

Kuemmerle-Deschner JB.

Semin Immunopathol. 2015 Jul;37(4):377-85. doi: 10.1007/s00281-015-0491-7. Epub 2015 May 12. Review.

PMID:
25963520
13.

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G.

Blood. 2004 Apr 1;103(7):2809-15. Epub 2003 Nov 20.

PMID:
14630794
14.

Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy.

Paloni G, Pastore S, Tommasini A, Lepore L, Taddio A.

Clin Exp Rheumatol. 2015 Sep-Oct;33(5):766. Epub 2015 Aug 27. No abstract available.

PMID:
26316056
15.

Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.

Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M.

Pediatrics. 2014 Nov;134(5):e1468-73. doi: 10.1542/peds.2013-3185.

PMID:
25349319
16.

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

Saito M, Fujisawa A, Nishikomori R, Kambe N, Nakata-Hizume M, Yoshimoto M, Ohmori K, Okafuji I, Yoshioka T, Kusunoki T, Miyachi Y, Heike T, Nakahata T.

Arthritis Rheum. 2005 Nov;52(11):3579-85.

PMID:
16255047
17.

Enhanced chondrogenesis of induced pluripotent stem cells from patients with neonatal-onset multisystem inflammatory disease occurs via the caspase 1-independent cAMP/protein kinase A/CREB pathway.

Yokoyama K, Ikeya M, Umeda K, Oda H, Nodomi S, Nasu A, Matsumoto Y, Izawa K, Horigome K, Kusaka T, Tanaka T, Saito MK, Yasumi T, Nishikomori R, Ohara O, Nakayama N, Nakahata T, Heike T, Toguchida J.

Arthritis Rheumatol. 2015 Jan;67(1):302-14. doi: 10.1002/art.38912.

PMID:
25302486
18.

Early progression of atherosclerosis in children with chronic infantile neurological cutaneous and articular syndrome.

Yamamura K, Takada H, Uike K, Nakashima Y, Hirata Y, Nagata H, Takimoto T, Ishimura M, Morihana E, Ohga S, Hara T.

Rheumatology (Oxford). 2014 Oct;53(10):1783-7. doi: 10.1093/rheumatology/keu180. Epub 2014 May 11.

PMID:
24821850
19.

"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies.

Hedrich CM, Bruck N, Paul D, Hahn G, Gahr M, Rösen-Wolff A.

Rheumatol Int. 2012 Sep;32(9):2629-36. doi: 10.1007/s00296-011-2019-3. Epub 2011 Jul 22.

PMID:
21833523
20.

Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.

Leone V, Presani G, Perticarari S, Tommasini A, Crovella S, Lenhardt A, Picco P, Lepore L.

Eur J Pediatr. 2003 Oct;162(10):669-73. Epub 2003 Aug 20.

PMID:
12928894
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