Maladies auto-inflammatoires

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):3027-36Lire 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):1337-45Lire 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 7Lire 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.e17Lire 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 2016Lire le résumé
Hoffman HM, Broderick L. It just takes one: Somatic mosaicism in autoinflammatory disease. Arthritis Rheumatol Hoboken NJ. 16 oct 2016Lire le résumé
Nienke M ter Haar et al. Development of the autoinflammatory disease damage index (ADDI) Ann Rheum Dis 3 nov 2016Lire 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 18Lire 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 15Lire 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/S0091674919300375Lire 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-2018-214102Lire 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/S0091674919307626Lire 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
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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 406Lire 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];10Lire 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
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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
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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.
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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):2778‑99Lire 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
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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]
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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)
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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.
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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.
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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];
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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.
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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]
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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.

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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.
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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.
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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. (
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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.
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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.
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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.
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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.
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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.2022.0292Lire 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-2022-222339Lire 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):1050‑62Lire 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):108Lire 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):4912‑9Lire 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
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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):105490Lire 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):2199‑201Lire 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.42690Lire 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-2023-224460Lire 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;kead506Lire 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.e2Lire 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):e172975Lire 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):857‑65Lire 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