Savoldi G - Search Results

1

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

Donini M, Fontana S, Savoldi G, Vermi W, Tassone L, Gentili F, Zenaro E, Ferrari D, Notarangelo LD, Porta F, Facchetti F, Notarangelo LD, Dusi S, Badolato R. Donini M, et al. Among authors: savoldi g. Blood. 2007 Jun 1;109(11):4716-23. doi: 10.1182/blood-2006-09-045427. Epub 2007 Feb 20. Blood. 2007. PMID: 17311988 Free article.

2

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD. Schumacher RF, et al. Among authors: savoldi g. Hum Genet. 2000 Jan;106(1):73-9. doi: 10.1007/s004390051012. Hum Genet. 2000. PMID: 10982185

3

Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.

Notarangelo LD, Giliani S, Mella P, Schumacher RF, Mazza C, Savoldi G, Rodriguez-Pérez C, Badolato R, Mazzolari E, Porta F, Candotti F, Ugazio AG. Notarangelo LD, et al. Among authors: savoldi g. Immunobiology. 2000 Aug;202(2):106-19. doi: 10.1016/s0171-2985(00)80058-3. Immunobiology. 2000. PMID: 10993286 Review.

4

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF. Notarangelo LD, et al. Among authors: savoldi g. Hum Mutat. 2001 Oct;18(4):255-63. doi: 10.1002/humu.1188. Hum Mutat. 2001. PMID: 11668610 Review.

5

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.

Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD. Mella P, et al. Among authors: savoldi g. Hum Mutat. 2001 Oct;18(4):355-6. doi: 10.1002/humu.1199. Hum Mutat. 2001. PMID: 11668621

6

Congenital neutropenia: advances in diagnosis and treatment.

Badolato R, Fontana S, Notarangelo LD, Savoldi G. Badolato R, et al. Among authors: savoldi g. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):513-21. doi: 10.1097/00130832-200412000-00007. Curr Opin Allergy Clin Immunol. 2004. PMID: 15640692 Review.

7

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

Tassone L, Notarangelo LD, Bonomi V, Savoldi G, Sensi A, Soresina A, Smith CI, Porta F, Plebani A, Notarangelo LD, Badolato R. Tassone L, et al. Among authors: savoldi g. J Allergy Clin Immunol. 2009 May;123(5):1170-3, 1173.e1-3. doi: 10.1016/j.jaci.2008.12.1133. Epub 2009 Mar 24. J Allergy Clin Immunol. 2009. PMID: 19321197 No abstract available.

8

PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients.

Chiarini M, Sabelli C, Melotti P, Garlanda C, Savoldi G, Mazza C, Padoan R, Plebani A, Mantovani A, Notarangelo LD, Assael BM, Badolato R. Chiarini M, et al. Among authors: savoldi g. Genes Immun. 2010 Dec;11(8):665-70. doi: 10.1038/gene.2010.41. Epub 2010 Oct 7. Genes Immun. 2010. PMID: 20927127 Free PMC article.

9

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.

Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S. Lanzi G, et al. Among authors: savoldi g. J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9. J Exp Med. 2012. PMID: 22231303 Free PMC article.

10

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Notarangelo LD, Savoldi G, Cavagnini S, Bennato V, Vasile S, Pilotta A, Plebani A, Porta F. Notarangelo LD, et al. Among authors: savoldi g. Ital J Pediatr. 2014 Nov 14;40:80. doi: 10.1186/s13052-014-0080-8. Ital J Pediatr. 2014. PMID: 25391451 Free PMC article.

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