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New data in causes of autoinflammatory diseases.
Kone-Paut I, Georgin-Laviallec S, Galeotti C, Rossi-Semerano L, Hentgen V, Savey L, Saadoun D, Sarrabay G, Touitou I. Kone-Paut I, et al. Joint Bone Spine. 2019 Oct;86(5):554-561. doi: 10.1016/j.jbspin.2018.11.003. Epub 2018 Nov 22. Joint Bone Spine. 2019. PMID: 30471422 Review.
Similar to Behcet's disease, A20 haploinsufficiency manifests as oral and genital ulcers and, more rarely, as uveitis. ...Otulin deficiency results in systemic inflammatory manifestations at a very young age, with panniculitis, lipodystrophy, and inflammatory bowel disease …
Similar to Behcet's disease, A20 haploinsufficiency manifests as oral and genital ulcers and, more rarely, as uveitis. ...Otulin defi …
[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].
Feist E, Brehm A, Kallinich T, Krüger E. Feist E, et al. Z Rheumatol. 2017 May;76(4):328-334. doi: 10.1007/s00393-017-0264-x. Z Rheumatol. 2017. PMID: 28124745 Review. German.
Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated …
Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive …
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A, Goldbach-Mansky R. Almeida de Jesus A, et al. Clin Immunol. 2013 Jun;147(3):155-74. doi: 10.1016/j.clim.2013.03.016. Epub 2013 Apr 9. Clin Immunol. 2013. PMID: 23711932 Free PMC article. Review.
The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the thre …
The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory disease …
Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.
Sanchez GA, de Jesus AA, Goldbach-Mansky R. Sanchez GA, et al. Rheum Dis Clin North Am. 2013 Nov;39(4):701-34. doi: 10.1016/j.rdc.2013.08.001. Epub 2013 Sep 21. Rheum Dis Clin North Am. 2013. PMID: 24182851 Free PMC article. Review.
The pathogenesis of monogenic autoinflammatory diseases converges on the presence of exaggerated immune responses that are triggered through activation of altered pattern recognition receptor (PRR) pathways and result in cytokine/chemokine amplification loops and the infla …
The pathogenesis of monogenic autoinflammatory diseases converges on the presence of exaggerated immune responses that are triggered …
Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases.
Brehm A, Krüger E. Brehm A, et al. Semin Immunopathol. 2015 Jul;37(4):323-33. doi: 10.1007/s00281-015-0486-4. Epub 2015 May 12. Semin Immunopathol. 2015. PMID: 25963519 Review.
The link between proteostasis impairment and inflammation may play a crucial role in autoinflammation as well as in age-related diseases and currently uncharacterized diseases. Recent studies on proteasome-associated autoinflammatory syndromes (PRAAS) …
The link between proteostasis impairment and inflammation may play a crucial role in autoinflammation as well as in age-related diseases and …