Maladies auto-inflammatoires

Maladies auto-inflammatoires

  
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