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Page 1
Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.
Lin B, Goldbach-Mansky R. Lin B, et al. J Allergy Clin Immunol. 2022 Mar;149(3):819-832. doi: 10.1016/j.jaci.2021.10.027. Epub 2021 Dec 8. J Allergy Clin Immunol. 2022. PMID: 34893352 Free PMC article. Review.
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in genes encoding IL-1-activating inflammasomes or cytoplasmic nucleic acid sensors including the receptor and sensor STING and result in increased IL-1 and type I interferon …
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in genes encoding IL-1-activating inflamm …
[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.
Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated autoinflammatory syndromes (PRAAS). Accumulation of ubiquitinated proteins and the indu …
Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases …
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.
The spectrum of factors known to mediate autoinflammation has broadened recently to include not only interleukin-1 (IL-1) and interferon, but also abnormalities that impair NF-kappaB pathway negative regulation. ...Otulin deficiency results in systemic inflammatory …
The spectrum of factors known to mediate autoinflammation has broadened recently to include not only interleukin-1 (IL-1) and …
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. t …
The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory disease …
Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.
de Jesus AA, Canna SW, Liu Y, Goldbach-Mansky R. de Jesus AA, et al. Annu Rev Immunol. 2015;33:823-74. doi: 10.1146/annurev-immunol-032414-112227. Epub 2015 Feb 20. Annu Rev Immunol. 2015. PMID: 25706096 Free PMC article. Review.
Patients with autoinflammatory diseases present with noninfectious fever flares and systemic and/or disease-specific organ inflammation. ...Discoveries of monogenic defects that lead to activation of proinflammatory cytokines have inspired the use of anticytokine-directed …
Patients with autoinflammatory diseases present with noninfectious fever flares and systemic and/or disease-specific organ inflammati …
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 …
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.
Takeichi T, Akiyama M. Takeichi T, et al. Front Immunol. 2020 Apr 30;11:641. doi: 10.3389/fimmu.2020.00641. eCollection 2020. Front Immunol. 2020. PMID: 32425927 Free PMC article. Review.
It is noteworthy that POMP is also known to be the causative gene for proteasome-associated autoinflammatory syndrome-2 (PRAAS2). It is considered that the disrupted proteasome assembly caused by the POMP mutation might lead to both skin inflammation a …
It is noteworthy that POMP is also known to be the causative gene for proteasome-associated autoinflammatory syndrom …
Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS).
Ebstein F, Poli Harlowe MC, Studencka-Turski M, Krüger E. Ebstein F, et al. Front Immunol. 2019 Nov 26;10:2756. doi: 10.3389/fimmu.2019.02756. eCollection 2019. Front Immunol. 2019. PMID: 31827472 Free PMC article. Review.
Type I interferonopathies cover a phenotypically heterogeneous group of rare genetic diseases including the recently described proteasome-associated autoinflammatory syndromes (PRAAS). By definition, PRAAS are caused by inherited and/or de novo loss-of …
Type I interferonopathies cover a phenotypically heterogeneous group of rare genetic diseases including the recently described proteasome …
Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.
Goldbach-Mansky R. Goldbach-Mansky R. Clin Exp Immunol. 2012 Mar;167(3):391-404. doi: 10.1111/j.1365-2249.2011.04533.x. Clin Exp Immunol. 2012. PMID: 22288582 Free PMC article. Review.
Following its initial failures in the treatment of sepsis and the moderate success in the treatment of rheumatoid arthritis, IL-1 blocking therapies had a renaissance in the treatment of a number of autoinflammatory conditions, and IL-1 blocking therapies hav …
Following its initial failures in the treatment of sepsis and the moderate success in the treatment of rheumatoid arthritis, IL-1 blo …
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 …