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Page 1
The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.
Caorsi R, Consolaro A, Speziani C, Sozeri B, Ulu K, Faugier-Fuentes E, Menchaca-Aguayo H, Ozen S, Sener S, Akhter Rahman S, Imnul Islam M, Haerynck F, Simonini G, Mastri MV, Avcin T, Sršen S, de Albuquerque Pedrosa Fernandes T, Stanevicha V, Vojinovic J, Sobh A, Fingerhutova S, Minxova L, Gagro A, Rodrigues Fonseca A, Pandya D, Varbanova B, Sánchez-Manubens J, Ganeva M, Montin D, Boyarchuk O, Minghini A, Bracaglia C, Brogan P, Candotti F, Cattalini M, Meyts I, Minoia F, Taddio A, Wouters C, De Benedetti F, Bovis F, Ravelli A, Ruperto N, Gattorno M; HyperPED-COVID study group; ERN-RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases); PReS (Pediatric Rheumatology European Society); ESID (European Society for Immunodeficiencies); ISSAID (International Society of Systemic Auto-Inflammatory Diseases) and the; **Paediatric Rheumatology International Trials Organisation (PRINTO); Bilginer Y, Laila K, Islam MM, Meertens B, Hoste L, Dehoorne J, Schelstraete P, Vandekerckhove K, Willems J, Matthijs I, Filocamo E Gisella Beatrice Beretta G, Magalhaes CS, Chubata O, Ricci F, Vukovic A, Temelkova K, Avramovic MZ, Emersic N, Bizjak M, Vese… See abstract for full author list ➔ Caorsi R, et al. Among authors: montin d. J Autoimmun. 2024 Jul;147:103265. doi: 10.1016/j.jaut.2024.103265. Epub 2024 Jun 4. J Autoimmun. 2024. PMID: 38838452
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Magg T, et al. Among authors: montin d. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. Sci Immunol. 2021. PMID: 34145065 Free PMC article.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Among authors: montin d. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.
Correction: the complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.
Guanà R, Garofalo S, Teruzzi E, Vinardi S, Carbonaro G, Cerrina A, Morra I, Montin D, Mussa A, Schleef J. Guanà R, et al. Among authors: montin d. Pediatr Gastroenterol Hepatol Nutr. 2015 Mar;18(1):71. doi: 10.5223/pghn.2015.18.1.71. Pediatr Gastroenterol Hepatol Nutr. 2015. PMID: 25866737 Free PMC article.
Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee.
Giancane G, Swart JF, Castagnola E, Groll AH, Horneff G, Huppertz HI, Lovell DJ, Wolfs T, Herlin T, Dolezalova P, Sanner H, Susic G, Sztajnbok F, Maritsi D, Constantin T, Vargova V, Sawhney S, Rygg M, K Oliveira S, Cattalini M, Bovis F, Bagnasco F, Pistorio A, Martini A, Wulffraat N, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO). Giancane G, et al. Arthritis Res Ther. 2020 Apr 7;22(1):71. doi: 10.1186/s13075-020-02167-2. Arthritis Res Ther. 2020. PMID: 32264969 Free PMC article. Clinical Trial.
Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network.
Vitale A, Sota J, Obici L, Ricco N, Maggio MC, Cattalini M, Ruscitti P, Caso F, Manna R, Viapiana O, Caggiano V, Emmi G, Insalaco A, Montin D, Licciardi F, Soriano A, Dagna L, Salvarani C, Lamacchia V, Hernández-Rodríguez J, Giacomelli R, Frediani B, Renieri A, Cantarini L. Vitale A, et al. Among authors: montin d. Mediators Inflamm. 2020 May 27;2020:1936960. doi: 10.1155/2020/1936960. eCollection 2020. Mediators Inflamm. 2020. PMID: 32565720 Free PMC article.
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.
Gaggiano C, Vitale A, Obici L, Merlini G, Soriano A, Viapiana O, Cattalini M, Maggio MC, Lopalco G, Montin D, Jaber MA, Dagna L, Manna R, Insalaco A, Piga M, La Torre F, Berlengiero V, Gelardi V, Ciarcia L, Emmi G, Ruscitti P, Caso F, Cimaz R, Hernández-Rodríguez J, Parronchi P, Sicignano LL, Verrecchia E, Iannone F, Sota J, Grosso S, Salvarani C, Frediani B, Giacomelli R, Mencarelli MA, Renieri A, Rigante D, Cantarini L. Gaggiano C, et al. Among authors: montin d. Mediators Inflamm. 2020 Aug 7;2020:8562485. doi: 10.1155/2020/8562485. eCollection 2020. Mediators Inflamm. 2020. PMID: 32831641 Free PMC article.
78 results