International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Autor: Farkas, H, Martinez Saguer, I, Bork, K, Bowen, T, Craig, T, Frank, M, Germenis, Ae, Grumach, As, Luczay, A, Varga, L, Zanichelli, A, Aberer, W, Andrejevic, S, Aygoeren Pürsün, E, Banerji, A, Bara, Na, Bas, M, Bernstein, J, Betschel, S, Björkander, J, Boccon Gibod, I, Bouillet, L, Bova, M, Boysen, Hh, Branco Ferreira, M, Bygum, A, Caballero, T, Cancian, M, Castaldo, A, Christiansen, S, Cicardi, M, Drouet, C, Fabiani, J, Gompels, M, Gonzalez Quevedo MT, Gooi, J, Gower, R, Gökmen, Nm, Grivcheva Panovska, V, Guilarte, M, Gülbahar, O, Hack, E, Hakl, R, Harmat, G, Mjeseňák, M, Jolles, S, Kaplan, A, Katelaris, C, Kosnik, M, Kőhalmi, Kv, Leibovich, I, Levi, M, Li, H, Longhurst, Hj, Lumry, W, Magerl, M, Malbran, A, Martin, L, Maurer, M, Mihály, E, Moldovan, D, Murdjeva, M, Nagy, Ib, Nielsen, Ew, Nieto, S, Nordenfelt, P, Obtulowitzc, K, Pedrosa, M, Porębski, G, Prior, N, Reshef, A, Riedl, Ma, Rosenkranz, B, Schmid Grendelmeier, P, Péter, S, Speletas, M, Staevska, M, Stobiecki, M, Triggiani, Massimo, Veszeli, N, Wuillemin, W, Xiang, Zy, Yamamoto, B, Zuraw, B.

Publikováno v: Allergy
Farkas, H, Martinez-Saguer, I, Bork, K, Bowen, T, Craig, T, Frank, M, Germenis, A E, Grumach, A S, Luczay, A, Varga, L, Zanichelli, A, HAWK & Bygum, A 2017, ' International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency ', Allergy, vol. 72, no. 2, pp. 300–313 . https://doi.org/10.1111/all.13001

BACKGROUND: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f408e9ac62b0c266ea781891be1a053c
http://hdl.handle.net/11386/4685338

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Autor: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ

Publikováno v: The Journal of Allergy and Clinical Immunology

Background: Activated PI3-Kinase Delta Syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ).\ud Objecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a5a4918b3be492ba1184de8dfc1df017

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Hereditary angioedema: causes, manifestations and treatment.

Autor: Longhurst HJ, Bork K

Publikováno v: British Journal of Hospital Medicine (17508460); 2006 Dec Modernising Medical Careers, Vol. 67 Issue 12, p654-657, 4p