Maladies auto-inflammatoires
Veille bibliographique : Maladies auto-inflammatoires
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| Feldstein LR, Rose EB, Horwitz SM, Collins JP, Newhams MM, Son MBF, et al. Multisystem Inflammatory Syndrome in U.S. Children and Adolescents. N Engl J Med. 23 juill 2020;383(4):334‑46. | Lire le résumé |
| Porritt RA, Binek A, Paschold L, Noval Rivas M, Mc Ardle A, Yonker LM, et al. The autoimmune signature of hyperinflammatory multisystem inflammatory syndrome in children. J Clin Invest [Internet]. 26 août 2021 [cité 13 sept 2021] | Lire le résumé |
| Rigante D et al. Macrophage activation syndrome in the course of monogenic autoinflammatory disorders. Clin Rheumatol. 2015 Apr 8. | Lire le résumé |
| Chang Z et al. Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS). Arthritis Rheumatol. 2014 Nov;66(11):3227-32. | Lire le résumé |
| Houx L et al. Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study. Arthritis Rheumatol. 2015 Nov; 67(11):3027-36 | Lire le résumé |
| Holzinger D et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45 | Lire le résumé |
| Zhou Q et al. I. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset auto inflammatory disease. Nat Genet. 2015 Dec 7 | Lire le résumé |
| Boyden SE et al. Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med. 18 févr 2016;374(7):656‑63. | Lire le résumé |
| Park YH et al. Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS. Nat Immunol. août 2016;17(8):914‑21. | Lire le résumé |
| Dorfleutner A, Stehlik C. A dRAStic RHOAdblock of Pyrin inflammasome activation. Nat Immunol. 19 juill 2016;17(8):900‑2. | Lire le résumé |
| Damgaard RB et al. The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. Cell. 25 août 2016;166(5):1215‑1230.e20. | Lire le résumé |
| Zhou Q et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 6 sept 2016;113(36):10127‑32. | Lire le résumé |
| Zhong FL et al. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell. 22 sept 2016;167(1):187‑202.e17 | Lire le résumé |
| Kawasaki Y et al. Pluripotent cell-based phenotypic dissection identifies a high-frequency somatic NLRC4 mutation as a cause of autoinflammation. Arthritis Rheumatol Hoboken NJ. 27 oct 2016 | Lire le résumé |
| Hoffman HM, Broderick L. It just takes one: Somatic mosaicism in autoinflammatory disease. Arthritis Rheumatol Hoboken NJ. 16 oct 2016 | Lire le résumé |
| Nienke M ter Haar et al. Development of the autoinflammatory disease damage index (ADDI) Ann Rheum Dis 3 nov 2016 | Lire le résumé |
| Grandemange Sylvie et al. “A New Autoinflammatory and Autoimmune Syndrome Associated with NLRP1 Mutations: NAIAD (NLRP1-Associated Autoinflammation with Arthritis and Dyskeratosis).” Annals of the Rheumatic Diseases, December 13, 2016. | Lire le résumé |
| Neocleous V et al. Evidence of digenic inheritance in autoinflammation-associated genes. J Genet. 2016 Dec;95(4):761-766. | Lire le résumé |
| Cox AJ et al. Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PloS One. 2017;12(3):e0169687. | Lire le résumé |
| Caorsi R et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017 May 18 | Lire le résumé |
| Lasigliè D et al. Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization. J Rheumatol. 2017 Sep 15 | Lire le résumé |
| Nakayama M et al. Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq. Biochem Biophys Rep. 2017 Mar;9:146–52. | Lire le résumé |
| Omoyinmi E et al. Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. PloS One. 2017;12(7):e0181874. | Lire le résumé |
| Turunen JA et al.Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. Am J Ophthalmol. 2018 Jan 20. | Lire le résumé |
| Aeschlimann FA, Batu ED et al. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis. 2018 Jan 9 | Lire le résumé |
| Antoneicka L. Harris, Patrick R. Blackburn et al. Whole Exo me Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema, Hindawi Case Reports in Genetics Volume 2018, Article ID 6968395 | Lire le résumé |
| De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. New England Journal of Medicine. 2018 May 17;378(20):1908–19. | Lire le résumé |
| Moghaddas F, Zeng P, Zhang Y, Schützle H, Brenner S, Hofmann SR, et al. Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)–LRR oligomerization interface. Journal of Allergy and Clinical Immunology [Internet]. 2018 May [cited 2018 Aug 3] | Lire le résumé |
| de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli A-S, Montealegre Sanchez GA, et al. Novel Proteasome Assembly Chaperone mutations in PSMG2/PAC2, cause the autoinflammatory interferonopathy, CANDLE/PRAAS4. Journal of Allergy and Clinical Immunology [Internet]. 2019 Jan [cited 2019 Feb 11]; Available from: https://linkinghub.elsevier.com/retrieve/pii/S0091674919300375 | Lire le résumé |
| Karacan İ, Balamir A, Uğurlu S, Aydın AK, Everest E, Zor S, et al. Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. Rheumatology International [Internet]. 2019 Feb 19 [cited 2019 Feb 27]; Available from: http://link.springer.com/10.1007/s00296-019-04252-5 | Lire le résumé |
| 1. Rice GI, Melki I, Frémond M-L, Briggs TA, Rodero MP, Kitabayashi N, et al. Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease. J Clin Immunol. févr 2017;37(2):123 32. 2.Ozen S, Bilginer Y, Batu ED, Taşkıran E, Özkara HA, Ünal Ş, et al. A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2 Subtitle: Deficiency of adenosine deaminase 2. J Rheumatol. 1 mai 2019;jrheum.181384. 3. Gibson KM, Morishita KA, Dancey P, Moorehead P, Drögemöller B, Han X, et al. Identification of novel Adenosine Deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis. Arthritis Rheumatol [Internet]. 22 avr 2019 [cité 27 mai 2019] 4. Insalaco A, Moneta GM, Pardeo M, Caiello I, Messia V, Bracaglia C, et al. Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency. J Rheumatol. mai 2019;46(5):523 6. 5. Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al. Treatment Strategies for Deficiency of Adenosine Deaminase 2. N Engl J Med. 18 avr 2019;380(16):1582 4. | Lire le résumé |
| Hong Y, Standing ASI, Nanthapisal S, Sebire N, Jolles S, Omoyinmi E, et al. Autoinflammation due to homozygous S208 MEFV mutation. Annals of the Rheumatic Diseases. 2018 Oct 24;annrheumdis-2018-214102 | Lire le résumé |
| Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, et al. Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy. J Allergy Clin Immunol [Internet]. juin 2019 [cité 19 juill 2019]; Disponible sur: https://linkinghub.elsevier.com/retrieve/pii/S0091674919307626 | Lire le résumé |
| Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, et al. Severe autoinflammation in four patients with C-terminal variants in CDC42 successfully treated with IL-1β inhibition. J Allergy Clin Immunol [Internet]. juill 2019 [cité 24 juill 2019]; Disponible sur: https://linkinghub.elsevier.com/retrieve/pii/S0091674919308309 | Lire le résumé |
| Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O’Neil LJ, Liu Y, et al. Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. Blood. 25 juill 2019;134(4):395 406 | Lire le résumé |
| Munoz MA, Jurczyluk J, Simon A, Hissaria P, Arts RJW, Coman D, et al. Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. Front Immunol [Internet]. 14 août 2019 [cité 26 sept 2019];10 | Lire le résumé |
| Ter Haar NM, Eijkelboom C, Cantarini L, Papa R, Brogan PA, Kone-Paut I, et al. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases. Ann Rheum Dis. oct 2019;78(10):1405 11 | Lire le résumé |
| 1. Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, et al. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. JAMA Dermatol. 1 mai 2019;155(5):548 2. Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, et al. Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. J Invest Dermatol. déc 2019;139(12):2458 2466.e9 | Lire le résumé |
| Fayand A, Hentgen V, Ducharme-Bénard S, Quartier P, Bader-Meunier B, Koné-Paut I, et al. Do we need the PFAPA syndrome in adults with non-monogenic periodic fevers? Ann Rheum Dis. 31 déc 2019;annrheumdis-2019-216827. | Lire le résumé |
| de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest [Internet]. 24 déc 2019 [cité 28 janv 2020] | Lire le résumé |
| Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2 déc 2019;216(12):2778‑99 | Lire le résumé |
| 1. Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, et al. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci. 15 janv 2019;116(3):970‑5. 2. Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, et al. Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant. J Hum Genet. sept 2019;64(9):955‑60. 3. Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, et al. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science. 24 août 2018;361(6404):810‑3. 4. Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, et al. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. janv 2020;577(7788):103‑8. 5. Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, et al. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. janv 2020;577(7788):109‑14 6. Newton K, Wickliffe KE, Dugger DL, Maltzman A, Roose-Girma M, Dohse M, et al. Cleavage of RIPK1 by caspase-8 is crucial for limiting apoptosis and necroptosis. Nature. oct 2019;574(7778):428‑31 | Lire le résumé |
| Scheffel J, Mahnke NA, Hofman ZLM, Maat S de, Wu J, Bonnekoh H, et al. Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. Nat Commun [Internet]. déc 2020 [cité 10 févr 2020];11(1) | Lire le résumé |
| Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, et al. Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis. Proc Natl Acad Sci. 9 juin 2020;202002051 | Lire le résumé |
| Schena F, Penco F, Volpi S, Pastorino C, Caorsi R, Kalli F, et al. Dysregulation in B‐cell responses and T follicular helper cell function in ADA2 deficiency patients. Eur J Immunol [Internet]. 28 août 2020 [cité 16 sept 2020] | Lire le résumé |
| Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med [Internet]. 27 oct 2020 [cité 29 oct 2020]; | Lire le résumé |
| Schnappauf O, Sampaio Moura N, Aksentijevich I, Stoffels M, Ombrello AK, Hoffmann P, et al. Sequence‐based screening of patients with idiopathic polyarteritis nodosa, granulomatosis with polyangiitis, and microscopic polyangiitis for deleterious genetic variants in ADA2. Arthritis Rheumatol [Internet]. 6 oct 2020 [cité 29 oct 2020]; | Lire le résumé |
| Laberko A, Burlakov V, Maier S, Abinun M, Skinner R, Kozlova A, et al. HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. J Allergy Clin Immunol [Internet]. déc 2020 [cité 26 janv 2021] | Lire le résumé |
| Hentgen V, Koné-Paut I, Belot A, Galeotti C, Grateau G, Carbasse A, et al. Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort. Front Pharmacol. 11 janv 2021;11:568865. (Frontiers) | Lire le résumé |
| Bhuyan F, Jesus AA, Mitchell J, Leikina E, VanTries R, Herzog R, et al. Novel Majeed syndrome causing LPIN2 mutations link bone inflammation to inflammatory M2 macrophages and accelerated osteoclastogenesis. Arthritis Rheumatol [Internet]. 14 déc 2020 [cité 19 févr 2021] | Lire le résumé |
| Tirosh I, Yacobi Y, Vivante A, Barel O, Ben-Moshe Y, Erez Granat O, et al. Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever. Rheumatology [Internet]. 9 févr 2021 [cité 19 févr 2021] | Lire le résumé |
| Schwartz DM, Kitakule MM, Dizon BL, Gutierrez-Huerta C, Blackstone SA, Burma AM, et al. Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. Ann Rheum Dis. 22 févr 2021;annrheumdis-2020-219137. | Lire le résumé |
| Ouldali N, Toubiana J, Antona D, Javouhey E, Madhi F, Lorrot M, et al. Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children. JAMA. 2 mars 2021;325(9):855. | Lire le résumé |
| Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, et al. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients with VEXAS Syndrome. Arthritis Rheumatol [Internet]. 28 mars 2021 [cité 23 avr 2021]; | Lire le résumé |
| Tsuchida N, Kunishita Y, Uchiyama Y, Kirino Y, Enaka M, Yamaguchi Y, et al. Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis. Ann Rheum Dis. 31 mars 2021;annrheumdis-2021-220089. | Lire le résumé |
| Bourbon E, Heiblig M, Gerfaud-Valentin M, Barba T, Durel CA, Lega J-C, et al. Therapeutic options in Vexas syndrome: insights from a retrospective series. Blood [Internet]. 22 févr 2021 [cité 26 avr 2021] | Lire le résumé |
| Systemic Inflammation Is Associated With Neurologic Involvement in Pediatric Inflammatory Multisystem Syndrome Associated With SARS-CoV-2. Neurol - Neuroimmunol Neuroinflammation. juill 2021;8(4):e1023. | Lire le résumé |
| Kitagawa Y, Kawasaki Y, Yamasaki Y, Kambe N, Takei S, Saito MK. Anti-TNF treatment corrects IFN-γ–dependent proinflammatory signatures in Blau syndrome patient–derived macrophages. J Allergy Clin Immunol. juin 2021;S0091674921008885. | Lire le résumé |
| Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, et al. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. Cell. août 2021;184(17):4447-4463.e20. | Lire le résumé |
| Welzel T, Wildermuth AL, Deschner N, Benseler SM, Kuemmerle-Deschner JB. Colchicine – an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants. Pediatr Rheumatol. déc 2021;19(1):142. | Lire le résumé |
| Tyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, et al. Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation. Nat Immunol. sept 2021;22(9):1118‑26. ( | Lire le résumé |
| Faraci M, Giardino S, Podestà M, Pierri F, Dell’Orso G, Beccaria A, et al. Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency. Rheumatology. 2 oct 2021;60(10):4850‑4. | Lire le résumé |
| Cole LD, Osborne CM, Silveira LJ, Rao S, Lockwood JM, Kunkel MJ, et al. IVIG Compared With IVIG Plus Infliximab in Multisystem Inflammatory Syndrome in Children. Pediatrics. 1 déc 2021;148(6):e2021052702. | Lire le résumé |
| Aeschlimann FA, Misra N, Hussein T, Panaioli E, Soslow JH, Crum K, et al. Myocardial involvement in children with post-COVID multisystem inflammatory syndrome: a cardiovascular magnetic resonance based multicenter international study—the CARDOVID registry. J Cardiovasc Magn Reson. déc 2021;23(1):140. | Lire le résumé |
| Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, et al. The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. Front Immunol. 10 janv 2022;12:811473. | Lire le résumé |
| Moreews M, Le Gouge K, Khaldi-Plassart S, Pescarmona R, Mathieu A-L, Malcus C, et al. Polyclonal expansion of TCR Vb 21.3 + CD4 + and CD8 + T cells is a hallmark of multisystem inflammatory syndrome in children. Sci Immunol. 28 mai 2021;6(59):eabh1516. | Lire le résumé |
| Villacis-Nunez S, Jones K, Jabbar A, Fan L, Moore W, S. Peter A, Henderson M, Xiang Y, S. Kelleman M, Sherry W, Chandrakasan S, E. Oste Mr, Jaggi P, Prahalad S, Short-term Outcomes of Corticosteroid Monotherapy in Multisystem Inflammatory Syndrome in Children. JAMA Pediatr . 2022 Mar 28;e220292. doi: 10.1001/jamapediatrics.2022.0292 | Lire le résumé |
| Wiebe E, Huscher D, Schaumburg D, Palmowski A, Hermann S, Buttgereit T, et al. Optimising both disease control and glucocorticoid dosing is essential for bone protection in patients with rheumatic disease. Ann Rheum Dis. 9 juin 2022;annrheumdis-2022-222339 | Lire le résumé |
| Sacco K, Castagnoli R, Vakkilainen S, Liu C, Delmonte OM, Oguz C, et al. Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19. Nat Med. mai 2022;28(5):1050‑62 | Lire le résumé |
| Schnabel A, Nashawi M, Anderson C, Felsenstein S, Lamoudi M, Poole-Cowley J, et al. TNF-inhibitors or bisphosphonates in chronic nonbacterial osteomyelitis? - Results of an international retrospective multicenter study. Clin Immunol. mai 2022;238:109018. | Lire le résumé |
| Cebecauerová D, Malcová H, Koukolská V, Kvíčalová Z, Souček O, Wagenknecht L, et al. Two phenotypes of chronic recurrent multifocal osteomyelitis with different patterns of bone involvement. Pediatr Rheumatol Online J. 1 déc 2022;20(1):108 | Lire le résumé |
| Akuka A, Ben-Shabat N, Watad A, Tsur AM, Ehrenberg S, McGonagle D, et al. Association of anti-Ro seropositivity with cardiac rhythm and conduction disturbances. Eur Heart J. 14 déc 2022;43(47):4912‑9 | Lire le résumé |
| Hoytema van Konijnenburg EMM, Oussoren E, Frenkel J, van Hasselt PM. Isolated neurological presentations of mevalonate kinase deficiency. JIMD Rep. janv 2023;64(1):53‑6 | Lire le résumé |
| Yıldız Ç, Gezgin Yıldırım D, Inci A, Tümer L, Cengiz Ergin FB, Sunar Yayla ENS, et al. A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation. Joint Bone Spine. janv 2023;90(1):105490 | Lire le résumé |
| De Benedetti F, Grom AA, Brogan PA, Bracaglia C, Pardeo M, Marucci G, et al. Efficacy and safety of emapalumab in macrophage activation syndrome. Ann Rheum Dis. 31 mars 2023;ard-2022-223739. | Lire le résumé |
| Wang Y, Wang J, Zheng W, Zhang J, Wang J, Jin T, Tao P, Wang Y, Liu C, Huang J, Lee PY, Yu X, Zhou Q. Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design. Immunity. 2023 Jun 3:S1074-7613(23)00231-5. doi: 10.1016/j.immuni.2023.05.014. Epub ahead of print. PMID: 37315560. | Lire le résumé |
| Fontana M, Gilbertson J, Verona G, Riefolo M, Slamova I, Leone O, et al. Antibody-Associated Reversal of ATTR Amyloidosis-Related Cardiomyopathy. N Engl J Med. 8 juin 2023;388(23):2199‑201 | Lire le résumé |
| Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, et al. DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity. Blood. 1 juin 2023;141(22):2713‑26. | Lire le résumé |
| Papa R, Caorsi R, Volpi S, Gattorno M. Expert Perspective: Diagnostic approach to the autoinflammatory diseases. Arthritis Rheumatol. 3 sept 2023;art.42690 | Lire le résumé |
| Mascaro JM, Rodriguez-Pinto I, Poza G, Mensa-Vilaro A, Fernandez-Martin J, Caminal-Montero L, et al. Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism. Ann Rheum Dis. 4 sept 2023;ard-2023-224460 | Lire le résumé |
| Sánchez-Hernández BE, Calderón-Espinoza I, Martín-Nares E. Challenging the paradigm: a case of early-onset VEXAS syndrome. Rheumatology. 22 sept 2023;kead506 | Lire le résumé |
| Berner J, van de Wetering C, Jimenez Heredia R, Rashkova C, Ferdinandusse S, Koster J, et al. Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases. J Allergy Clin Immunol. oct 2023;152(4):1025-1031.e2 | Lire le résumé |
| Wang Q, Jin T, Jian S, Han X, Song H, Zhou Q, et al. A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes. JCI Insight. 9 oct 2023;8(19):e172975 | Lire le résumé |
| De Benedetti F, Grom AA, Brogan PA, Bracaglia C, Pardeo M, Marucci G, et al. Efficacy and safety of emapalumab in macrophage activation syndrome. Ann Rheum Dis. juin 2023;82(6):857‑65 | Lire le résumé |
| Terré A, Magnotti F, Piot JM, Boursier G, Georgin-Lavialle S. Pyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation. Eur J Intern Med. nov 2023;S0953620523004107. | Lire le résumé |
| Robert M, Giolito A, Reumaux H, Rossi-Semerano L, Guillemin C, Biarrotte L, et al. Extra-osseous manifestations in chronic recurrent multifocal osteomyelitis: a retrospective study. Rheumatology (Oxford). 12 sept 2023;kead473 | Lire le résumé |