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2002 1
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2008 1
2009 2
2010 2
2011 6
2012 6
2013 4
2014 1
2015 4
2016 3
2017 3
2018 2
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2024 2

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Page 1
Vaccination and Induction of Autoimmune Diseases.
Toussirot É, Bereau M. Toussirot É, et al. Inflamm Allergy Drug Targets. 2015;14(2):94-8. doi: 10.2174/1871528114666160105113046. Inflamm Allergy Drug Targets. 2015. PMID: 26728772 Review.
The role of adjuvants in vaccines has been described by other teams and in a more general syndrome (Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants). Thus, cases of AID triggered by vaccines are highly rare and raise questions about the interaction between …
The role of adjuvants in vaccines has been described by other teams and in a more general syndrome (Autoimmune/Autoinflammatory Sy …
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. de Jesus AA, et al. J Clin Invest. 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. J Clin Invest. 2020. PMID: 31874111 Free PMC article. Clinical Trial.
Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available targeted treatments.METHODSSixty-six consecutively referred USAID patients underwent underwent screening for the presence of an interferon signature using a standardized type-I IFN- …
Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available targeted treatments.METHODSSixty-six cons …
Dominant negative OTULIN-related autoinflammatory syndrome.
Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun JM, Laohamonthonkul P, Cerra A, Kratina T; CIRCA; AADRY; Li MWY, Russell C, van Beek A, Kirk EP, Walsh R, Alqanatish J, Almojali A, Alsuwairi W, Alrasheed A, Lalaoui N, Gray PE, Komander D, Masters SL. Davidson S, et al. J Exp Med. 2024 Jun 3;221(6):e20222171. doi: 10.1084/jem.20222171. Epub 2024 Apr 17. J Exp Med. 2024. PMID: 38630025
Biallelic loss-of-function mutations causes OTULIN-related autoinflammatory syndrome (ORAS), while OTULIN haploinsuffiency has not been associated with spontaneous inflammation. However, herein, we identify two patients with the heterozygous mutation p.Cys129Ser in …
Biallelic loss-of-function mutations causes OTULIN-related autoinflammatory syndrome (ORAS), while OTULIN haploinsuffiency has …
Pharmacological treatment options for cryopyrin-associated periodic syndromes.
Landmann EC, Walker UA. Landmann EC, et al. Expert Rev Clin Pharmacol. 2017 Aug;10(8):855-864. doi: 10.1080/17512433.2017.1338946. Epub 2017 Jun 20. Expert Rev Clin Pharmacol. 2017. PMID: 28586272 Review.
Expert commentary: Due to the success story of current pharmaceutics, the therapeutic options in CAPS are not expected to expand in the near future. Prospective observational studies are needed to confirm long-term efficacy and sustained benefit. ...
Expert commentary: Due to the success story of current pharmaceutics, the therapeutic options in CAPS are not expected to expand in the near …
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.
Miyamoto T, Honda Y, Izawa K, Kanazawa N, Kadowaki S, Ohnishi H, Fujimoto M, Kambe N, Kase N, Shiba T, Nakagishi Y, Akizuki S, Murakami K, Bamba M, Nishida Y, Inui A, Fujisawa T, Nishida D, Iwata N, Otsubo Y, Ishimori S, Nishikori M, Tanizawa K, Nakamura T, Ueda T, Ohwada Y, Tsuyusaki Y, Shimizu M, Ebato T, Iwao K, Kubo A, Kawai T, Matsubayashi T, Miyazaki T, Kanayama T, Nishitani-Isa M, Nihira H, Abe J, Tanaka T, Hiejima E, Okada S, Ohara O, Saito MK, Takita J, Nishikomori R, Yasumi T. Miyamoto T, et al. Front Immunol. 2022 Sep 23;13:905960. doi: 10.3389/fimmu.2022.905960. eCollection 2022. Front Immunol. 2022. PMID: 36211342 Free PMC article.
RESULTS: A total of 117 samples from 94 patients with inflammatory diseases, including 37 undiagnosed cases, were analyzed. Increased IFN signaling was observed in 19 undiagnosed patients, with 10 exhibiting clinical features commonly found in type I interferonopathies. Sk …
RESULTS: A total of 117 samples from 94 patients with inflammatory diseases, including 37 undiagnosed cases, were analyzed. Increased IFN si …
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA. Cooray S, et al. Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749. eCollection 2023. Front Immunol. 2023. PMID: 37744344 Free PMC article.
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4. ...Structure-based modeling of the DD mutation p.Q29P showed alteration in t …
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomeg …
Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.
Yadlapati S, Efthimiou P. Yadlapati S, et al. Mod Rheumatol. 2016;26(1):3-8. doi: 10.3109/14397595.2015.1069459. Epub 2015 Aug 3. Mod Rheumatol. 2016. PMID: 26140469 Review.
Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID. ...In clinical stu …
Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory …
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E. Papendorf JJ, et al. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammato …
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to …
Blau syndrome, clinical and genetic aspects.
Sfriso P, Caso F, Tognon S, Galozzi P, Gava A, Punzi L. Sfriso P, et al. Autoimmun Rev. 2012 Nov;12(1):44-51. doi: 10.1016/j.autrev.2012.07.028. Epub 2012 Aug 2. Autoimmun Rev. 2012. PMID: 22884558 Review.
Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous recurrent uveitis, dermatitis and symmetric arthritis. ...The manifestations at disease onset are usually represented by articular and cut …
Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatou …
Molecular and genetic characteristics of hereditary autoinflammatory diseases.
Tunca M, Ozdogan H. Tunca M, et al. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80. doi: 10.2174/1568010053622957. Curr Drug Targets Inflamm Allergy. 2005. PMID: 15720239 Review.
There are currently eight hereditary forms of these diseases: Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS), familial cold auto …
There are currently eight hereditary forms of these diseases: Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fe …
62 results