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Items: 16

1.

CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

Cavalcante MP, Brunelli JB, Miranda CC, Novak GV, Malle L, Aikawa NE, Jesus AA, Silva CA.

Eur J Pediatr. 2016 May;175(5):735-40. doi: 10.1007/s00431-015-2668-4. Epub 2015 Nov 14.

PMID:
26567544
2.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. Erratum in: J Clin Invest. 2016 Feb;126(2):795. Rother, Kristina [corrected to Rother, Kristina I].

3.

Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.

Torrelo A, Colmenero I, Requena L, Paller AS, Ramot Y, Richard Lee CC, Vera A, Zlotogorski A, Goldbach-Mansky R, Kutzner H.

Am J Dermatopathol. 2015 Jul;37(7):517-22. doi: 10.1097/DAD.0000000000000340.

4.

Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.

McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L.

Int J Dermatol. 2015 Feb;54(2):121-9. doi: 10.1111/ijd.12695. Epub 2014 Dec 18. Review.

PMID:
25521013
5.

CANDLE syndrome: a recently described autoinflammatory syndrome.

Tüfekçi Ö, Bengoa Ş, Karapinar TH, Ataseven EB, İrken G, Ören H.

J Pediatr Hematol Oncol. 2015 May;37(4):296-9. doi: 10.1097/MPH.0000000000000212.

PMID:
25036278
6.

A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.

Kunimoto K, Kimura A, Uede K, Okuda M, Aoyagi N, Furukawa F, Kanazawa N.

Dermatology. 2013;227(1):26-30. doi: 10.1159/000351323. Epub 2013 Aug 8.

PMID:
23942189
7.

How to diagnose a lipodystrophy syndrome.

Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL.

Ann Endocrinol (Paris). 2012 Jun;73(3):170-89. doi: 10.1016/j.ando.2012.04.010. Epub 2012 Jun 28. Review.

PMID:
22748602
8.

Neonatal Sweet syndrome: a potential marker of serious systemic illness.

Gray PE, Bock V, Ziegler DS, Wargon O.

Pediatrics. 2012 May;129(5):e1353-9. doi: 10.1542/peds.2011-1854. Epub 2012 Apr 16.

PMID:
22508923
9.

Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.

Kanazawa N.

Allergol Int. 2012 Jun;61(2):197-206. doi: 10.2332/allergolint.11-RAI-0416. Epub 2012 Mar 25. Review.

10.

Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.

Kanazawa N.

J Dermatol Sci. 2012 Jun;66(3):183-9. doi: 10.1016/j.jdermsci.2012.01.004. Epub 2012 Jan 18. Review.

PMID:
22336993
12.

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A.

Arthritis Rheum. 2012 Mar;64(3):895-907. doi: 10.1002/art.33368.

13.

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K.

J Clin Invest. 2011 Oct;121(10):4150-60. doi: 10.1172/JCI58414. Epub 2011 Sep 1.

14.

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.

Garg A.

J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24. Review.

PMID:
21865368
15.

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K.

Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108. Epub 2011 Aug 18.

16.

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, Martínez de Villarreal L, dos Santos HG, Garg A.

Am J Hum Genet. 2010 Dec 10;87(6):866-72. doi: 10.1016/j.ajhg.2010.10.031.

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