Zobrazeno 1 - 3
of 3
pro vyhledávání: '"humoral defect"'
Autor:
Manuela Cortesi, Elisabetta Prada, Davide Montin, Fabio Cardinale, Alessia Morreale, Silvia Ricci, Antonio Marzollo, Mathilde Nizon, Igor Romaniouk, Donatella Milani, Richard Herriot, Raffaele Badolato, Francesco Saettini, Cristina Gervasini, Daniele Zama, Marie Vincent, Andrea Biondi, Vassilios Lougaris, Elena Domínguez-Garrido, Rika Kosaki
Although recurrent infections in Rubinstein–Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysreg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fc1b417753c42119ca7278888aebcf
http://hdl.handle.net/11379/538887
http://hdl.handle.net/11379/538887
Autor:
Enrica Calzoni, Yasuhiro Yamazaki, Silvia Di Cesare, Andrea Finocchi, Alessia Claps, Alessia Scarselli, Davide Petricone, Gigliola Di Matteo, Cristina Cifaldi, Caterina Cancrini, Maria Chiriaco, Luigi D. Notarangelo, Paolo Rossi
Recombination-activating gene ( RAG ) 1 and 2 mutations in humans cause T − B − NK + SCID and Omenn syndrome, but milder phenotypes associated with residual protein activity have been recently described. We report a male patient with a diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202792e3b0c37d086495f73884eb0b4c
http://hdl.handle.net/2108/171269
http://hdl.handle.net/2108/171269
Akademický článek
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