Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.

نویسندگان

  • Barbara Pressato
  • Roberto Valli
  • Cristina Marletta
  • Lydia Mare
  • Giuseppe Montalbano
  • Francesco Lo Curto
  • Francesco Pasquali
  • Emanuela Maserati
چکیده

Bianchi, V., Robles, R., Alberio, L., Furlan, M. & Lammle, B. (2002) Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura. Blood, 100, 710–713. Coppo, P., Bengoufa, D., Veyradier, A., Wolf, M., Bussel, A., Millot, G.A., Malot, S., Heshmati, F., Mira, J.P., Boulanger, E., Galicier, L., DureyDragon, M.A., Fremeaux-Bacchi, V., Ramakers, M., Pruna, A., Bordessoule, D., Gouilleux, V., Scrobohaci, M.L., Vernant, J.P., Moreau, D., Azoulay, E., Schlemmer, B., Guillevin, L. & Lassoued, K. (2004) Severe ADAMTS13 deficiency in adult idiopathic thrombotic microangiopathies defines a subset of patients characterized by various autoimmune manifestations, lower platelet count, and mild renal involvement. Medicine (Baltimore), 83, 233–244. Froehlich-Zahnd, R., George, J.N., Vesely, S.K., Terrell, D.R., Aboulfatova, K., Dong, J.F., Luken, B.M., Voorberg, J., Budde, U., Sulzer, I., Lammle, B. & Kremer Hovinga, J.A. (2011) Evidence for a role of anti-ADAMTS13 autoantibodies despite normal ADAMTS13 activity in recurrent thrombotic thrombocytopenic purpura. Haematologica. Epub ahead of print. doi: 10.3324/haematol.2011.051433. Hovinga, J.A., Vesely, S.K., Terrell, D.R., Lammle, B. & George, J.N. (2010) Survival and relapse in patients with thrombotic thrombocytopenic purpura. Blood, 115, 1500–1511; quiz 1662. Legendre, C.M., Babu, S., Furman, R.R., Sheerin, N.S., Cohen, D.J., Gaber, O., Eitner, F., Delmas, Y., Loirat, C., Greenbaum, L.A. & Zimmerhackl, L.B. (2010) Safety & efficacy of eculizumab in aHUS patients resistant to plasma therapy: interim analysis from a phase II trial. Journal of the American Society of Nephrology, 21, 93A. Mache, C.J., Acham-Roschitz, B., Fremeaux-Bacchi, V., Kirschfink, M., Zipfel, P.F., Roedl, S., Vester, U. & Ring, E. (2009) Complement inhibitor eculizumab in atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol, 4, 1312– 1316. Remuzzi, G. (2003) Is ADAMTS-13 deficiency specific for thrombotic thrombocytopenic purpura? No. J Thromb Haemost, 1, 632– 634. Remuzzi, G., Galbusera, M., Noris, M., Canciani, M.T., Daina, E., Bresin, E., Contaretti, S., Caprioli, J., Gamba, S., Ruggenenti, P., Perico, N. & Mannucci, P.M. (2002) von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. Blood, 100, 778–785. Salmon, J.E., Heuser, C., Triebwasser, M., Liszewski, M.K., Kavanagh, D., Roumenina, L., Branch, D.W., Goodship, T., Fremeaux-Bacchi, V. & Atkinson, J.P. (2011) Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort. PLoS Med, 8, e1001013. Tsai, H.M. (2003) Is severe deficiency of ADAMTS-13 specific for thrombotic thrombocytopenic purpura? Yes. Journal of Thrombosis and Haemostasis, 1, 625–631.

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عنوان ژورنال:
  • British journal of haematology

دوره 157 4  شماره 

صفحات  -

تاریخ انتشار 2012