Zobrazeno 1 - 10
of 311
pro vyhledávání: '"Cant, Aj"'
Autor:
Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel A, Cypowyj S, Thumerelle C, Toulon A, Bustamante J, Tahuil N, SALHI, DALILA, Boiu S, Chopra C, Di Giovanni D, Bezrodnik L, Boutros J, Thomas C, Lacuesta G, Jannier S, Korganow AS, Paillard C, Boutboul, Bué M, Marie-Cardine A, Bayart S, Migaud M, Weiss, Karmochkine M, Garcia-Martinez JM, Stephan JL, Bensaid P, Jeannoel GP, Witte T, Baumann U, Harrer T, Navarrete C, ACOSTA HUGHES, BENJAMIN, Firinu, Pignata C, Picco P, Mendoza D, Lugo Reyes SO, Torres Lozano C, Ortega-Cisneros M, Cortina M, Mesdaghi M, Nabavi M, Español T, Martínez-Saavedra MT, Rezaei N, Zoghi S, Pac M, Barlogis V, Revon-Rivière G, Haimi-Cohen Y, Spiegel R, Miron D, Bouchaib J, Blancas-Galicia L, Toth B, Drexel B, Rohrlich PS, Lesens O, Hoernes M, Drewe E, Abinum M, Sawalle-Belohradsky J, Kindle G, Depner M, Milani L, Nikopensius T, Remm M, Talas UG, Tucker M, Willis M, Leonard S, Meuwissen H, Ferdman RM, CORBO UGULINO, WALLACE, Desai MM, Taur P, Badolato R, Soltesz B, Schnopp C, Jansson AF, Ayvaz D, Shabashova N, Chernyshova L, Bondarenko A, Moshous D, Neven B, Boubidi C, Ailal F, Giardino G, Del Giacco S, Bougnoux ME, Imai K, Okawa T, Mizoguchi Y, Ozaki Y, Takeuchi M, Hayakawa A, Lögering B, Reich K, Buhl T, Eyerich K, Schaller M, Arkwright PD, Gennery AR, Cant AJ, Warris A, Henriet S, Mekki N, Barbouche R, Ben Mustapha I, Bodemer, Polak M, Grimprel E, Burgel PR, Fischer A, Hermine O, Debré M, Kocacyk D, Dhalla F, Patel SY, Moens L, Haerynck F, Dullaers, Hoste L, Sanal O, Kilic SS, Roesler J, Lanternier F, Lortholary O, Fieschi C, Church JA, Roifman C, Yuenyongviwat A, Peterson P, Boisson-Dupuis S, Abel L, Marciano BE, Netea MG.
Publikováno v:
Blood, 127(25), 3154. American Society of Hematology
Blood, 127, 3154-64
Blood, 127, 25, pp. 3154-64
Blood, 127, 3154-64
Blood, 127, 25, pp. 3154-64
Contains fulltext : 172671.pdf (Publisher’s version ) (Closed access) Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a3b7f9c5e0b02e255e53b51e0bb9d0
https://doi.org/10.1182/blood-2015-11-679902
https://doi.org/10.1182/blood-2015-11-679902
Autor:
Coulter, T, Chandra, A, Bacon, C, Babar, J, Curtis, J, Screaton, N, Goodlad, J, Farmer, G, Steele, C, Leahy, T, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, J, Longhurst, H, Ehl, S, C Grimbacher B, S, Sediva A Milota, Tfs, Williams, A, Hayman, G, Kucuk, Z, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, P, Jones, A, Imai, K, Ibrahim, M, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, I Fischer A Touzot F, P, Casanova, J, Durandy, A, Burns, S, Savic, S, Kumararatne, D, Moshous, D, Kracker, S, Vanhaesebroeck, B, K Picard C, O, Nejentsev, S, Condliffe AM Cant AJ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3667::6df7c9bfe7bcc829edbe06a0899606bc
http://hdl.handle.net/2108/295277
http://hdl.handle.net/2108/295277
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
Publikováno v:
Clinical immunology (Orlando, Fla., Print) 124(2 (2007): 165–169.
info:cnr-pdr/source/autori:Haq IJ, Steinberg LJ, Hoenig M, van der Burg M, Villa A, Cant AJ, Middleton PG, Gennery AR./titolo:GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B-SCID in patients with defects in RAG genes./doi:/rivista:Clinical immunology (Orlando, Fla., Print)/anno:2007/pagina_da:165/pagina_a:169/intervallo_pagine:165–169/volume:124(2
info:cnr-pdr/source/autori:Haq IJ, Steinberg LJ, Hoenig M, van der Burg M, Villa A, Cant AJ, Middleton PG, Gennery AR./titolo:GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B-SCID in patients with defects in RAG genes./doi:/rivista:Clinical immunology (Orlando, Fla., Print)/anno:2007/pagina_da:165/pagina_a:169/intervallo_pagine:165–169/volume:124(2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::bb0ebb3bc8405aedcc33c28934ec2805
https://publications.cnr.it/doc/55898
https://publications.cnr.it/doc/55898
Autor:
Ozsahin, H, CAVAZZANA CALVO, M, Notarangelo, Luigi Daniele, Schulz, A, Thrasher, Aj, Mazzolari, Evelina, Slatter, Ma, LE DEIST, F, Blanche, S, Veys, P, Fasth, A, Bredius, R, Sedlacek, P, Wulfraat, N, Ortega, J, Heilmann, C, O'Meara, A, Wachowiak, J, Kalwak, K, MATTHES MARTIN, S, Gungor, T, Ikinciogullari, A, Landais, P, Cant, Aj, Friederich, W, Fisher, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3662::5fc608273495fdfdf39d7a554affce92
http://hdl.handle.net/11379/23930
http://hdl.handle.net/11379/23930
Autor:
Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL. Clin Immunol. 116:246-256, 2005
Publikováno v:
Clinical immunology (Orlando, Fla., Print) 116 (2005): 246–256.
info:cnr-pdr/source/autori:Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL. Clin Immunol. 116:246-256, 2005/titolo:Omenn's syndrome occurring in patients without mutations in recombination activating genes./doi:/rivista:Clinical immunology (Orlando, Fla., Print)/anno:2005/pagina_da:246/pagina_a:256/intervallo_pagine:246–256/volume:116
info:cnr-pdr/source/autori:Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL. Clin Immunol. 116:246-256, 2005/titolo:Omenn's syndrome occurring in patients without mutations in recombination activating genes./doi:/rivista:Clinical immunology (Orlando, Fla., Print)/anno:2005/pagina_da:246/pagina_a:256/intervallo_pagine:246–256/volume:116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::1d0b15641f9d7e6e2538a404ea241328
https://publications.cnr.it/doc/55765
https://publications.cnr.it/doc/55765
Autor:
Notarangelo, Ld, Peitsch, Mc, Abrahamsen, Tg, Bachelot, C., Bordigoni, P., Cant, Aj, Chapel, H., Clementi, M., Deacock, S., Saint Basile, G., Duse, M., Espanol, T., Etzioni, A., Fasth, A., Fischer, A., Giliani, S., Gomez, L., Hammarstorm, L., Jones, A., Kanariou, M., Kinnon, C., Klemola, T., Kroczek, Ra, Levy, J., Matamoros, N., Monafo, V., Paolucci, P., Reznick, I., Sanal, O., C. I. Edvard SMITH, Thompson, Ra, Tovo, P., Villa, A., Vihinen, M., Vossen, J., Zegers, Bj
Publikováno v:
Karolinska Institutet
X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9232f734da7bcb3a39e3974d84298d9b
http://hdl.handle.net/2318/119199
http://hdl.handle.net/2318/119199
Publikováno v:
The Pediatric Infectious Disease Journal. 12:780-781
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Akademický článek
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