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Page 1
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M. Lam MT, et al. Among authors: de benedetti f. J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10. J Exp Med. 2019. PMID: 31601675 Free PMC article.
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.
De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG. De Benedetti F, et al. Among authors: de vito r. Clin Gastroenterol Hepatol. 2006 May;4(5):653-9. doi: 10.1016/j.cgh.2005.12.014. Clin Gastroenterol Hepatol. 2006. PMID: 16630773
Relapsing polychondritis: new therapeutic strategies with biological agents.
Buonuomo PS, Bracaglia C, Campana A, El Hachem M, Diociaiuti A, Insalaco A, De Benedetti F, Testa BC, Cortis E, De Vincentiis GC, Ugazio AG. Buonuomo PS, et al. Among authors: de vincentiis gc, de benedetti f. Rheumatol Int. 2010 Mar;30(5):691-3. doi: 10.1007/s00296-009-0981-9. Epub 2009 Aug 15. Rheumatol Int. 2010. PMID: 19685056
299 results