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Page 1
PAPA spectrum disorders.
Genovese G, Moltrasio C, Garcovich S, Marzano AV. Genovese G, et al. G Ital Dermatol Venereol. 2020 Oct;155(5):542-550. doi: 10.23736/S0392-0488.20.06629-8. Epub 2020 Jul 2. G Ital Dermatol Venereol. 2020. PMID: 32618443 Free article. Review.
Pyogenic arthritis, pyoderma gangrenosum (PG) and acne (PAPA) syndrome is an autosomal dominant autoinflammatory syndrome due to mutations in proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene and presenting with cutaneous and articular manife …
Pyogenic arthritis, pyoderma gangrenosum (PG) and acne (PAPA) syndrome is an autosomal dominant autoinflammatory syndrome due …
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 …
NLRP12-associated systemic autoinflammatory diseases in children.
Wang HF. Wang HF. Pediatr Rheumatol Online J. 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. Pediatr Rheumatol Online J. 2022. PMID: 35123508 Free PMC article. Review.
Nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease (NLRP12-AID) is a newly identified SAID and a rare autosomal dominant disorder caused by mutations in the NLRP12 gene, which is also known as familial cold autoinflammatory sy …
Nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease (NLRP12-AID) is a newly identified SAID and a …
Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.
Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, Lacombe V, Terriou L, Ardois S, Bouaziz JD, Mathian A, Le Guenno G, Aouba A, Outh R, Meyer A, Roux-Sauvat M, Ebbo M, Zhao LP, Bigot A, Jamilloux Y, Guillotin V, Flamarion E, Henneton P, Vial G, Jachiet V, Rossignol J, Vinzio S, Weitten T, Vinit J, Deligny C, Humbert S, Samson M, Magy-Bertrand N, Moulinet T, Bourguiba R, Hanslik T, Bachmeyer C, Sebert M, Kostine M, Bienvenu B, Biscay P, Liozon E, Sailler L, Chasset F, Audemard-Verger A, Duroyon E, Sarrabay G, Borlot F, Dieval C, Cluzeau T, Marianetti P, Lobbes H, Boursier G, Gerfaud-Valentin M, Jeannel J, Servettaz A, Audia S, Larue M, Henriot B, Faucher B, Graveleau J, de Sainte Marie B, Galland J, Bouillet L, Arnaud C, Ades L, Carrat F, Hirsch P, Fenaux P, Fain O, Sujobert P, Kosmider O, Mekinian A; French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON. Georgin-Lavialle S, et al. Br J Dermatol. 2022 Mar;186(3):564-574. doi: 10.1111/bjd.20805. Epub 2021 Nov 28. Br J Dermatol. 2022. PMID: 34632574 Free article.
BACKGROUND: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome'). ...
BACKGROUND: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndr …
Schnitzler Syndrome: a Review.
Gusdorf L, Lipsker D. Gusdorf L, et al. Curr Rheumatol Rep. 2017 Aug;19(8):46. doi: 10.1007/s11926-017-0673-5. Curr Rheumatol Rep. 2017. PMID: 28718061 Review.
The Schnitzler syndrome is now considered as a late-onset acquired autoinflammatory syndrome in which the cytokine IL-1 plays a crucial role. ...
The Schnitzler syndrome is now considered as a late-onset acquired autoinflammatory syndrome in which the cytokine IL-1 plays …
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A. van der Made CI, et al. J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. doi: 10.1016/j.jaci.2021.05.014. Epub 2021 May 25. J Allergy Clin Immunol. 2022. PMID: 34048852
BACKGROUND: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. ...
BACKGROUND: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X- …
Dermatology facing autoinflammatory syndrome.
Alecu M, Coman G, Muşetescu A, Cojoacă ME, Coman OA. Alecu M, et al. Rom J Morphol Embryol. 2015;56(1):7-14. Rom J Morphol Embryol. 2015. PMID: 25826481 Free article. Review.
Several skin disorders (pyoderma gangrenosum and pustular acne) may be encountered either isolate or associated with autoinflammatory symptoms, forming well-defined clinical entities within the autoinflammatory syndrome. The high prevalence of cutaneous manifestatio …
Several skin disorders (pyoderma gangrenosum and pustular acne) may be encountered either isolate or associated with autoinflammatory sympto …
Targeting cytokines to treat autoinflammatory diseases.
Hausmann JS. Hausmann JS. Clin Immunol. 2019 Sep;206:23-32. doi: 10.1016/j.clim.2018.10.016. Epub 2018 Oct 28. Clin Immunol. 2019. PMID: 30394352 Review.
In this review, I will discuss the most common autoinflammatory conditions of adulthood including familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency/hyperimmunoglobulinemia D Syndrome (MKD/HIDS), TNF receptor-associated …
In this review, I will discuss the most common autoinflammatory conditions of adulthood including familial Mediterranean fever (FMF), cryopy …
TNF receptor signalling in autoinflammatory diseases.
Jarosz-Griffiths HH, Holbrook J, Lara-Reyna S, McDermott MF. Jarosz-Griffiths HH, et al. Int Immunol. 2019 Sep 18;31(10):639-648. doi: 10.1093/intimm/dxz024. Int Immunol. 2019. PMID: 30838383 Free article. Review.
Elucidation of the molecular mechanisms of these recently defined autoinflammatory diseases has led to a greater understanding of the mechanisms of action of key molecules involved in TNFR signalling, particularly those involved in ubiquitination, as found in haploinsufficiency o …
Elucidation of the molecular mechanisms of these recently defined autoinflammatory diseases has led to a greater understanding of the mechan …
107 results