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Omenn syndrome in an infant with IL7RA gene mutation.
Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A, Malvezzi M, Fischer A, Notarangelo LD, Le Deist F. Giliani S, et al. J Pediatr. 2006 Feb;148(2):272-4. doi: 10.1016/j.jpeds.2005.10.004. J Pediatr. 2006. PMID: 16492442
In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).
Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, Brugnoni D, Giliani S, Fiorini M, Mella P, Guandalini F, Mazzolari E, Pecorelli S, Notarangelo LD, Porta F, Ugazio AG. Wengler GS, et al. Among authors: giliani s. Lancet. 1996 Nov 30;348(9040):1484-7. doi: 10.1016/s0140-6736(96)09392-0. Lancet. 1996. PMID: 8942778
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de 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, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. Notarangelo LD, et al. Among authors: giliani s. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A. Candotti F, et al. Among authors: giliani s. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Villa A, et al. Among authors: giliani s. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).
Wengler GS, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl MM, Ugazio AG, Notarangelo LD, Parolini O. Wengler GS, et al. Among authors: giliani s. Br J Haematol. 1998 Jun;101(3):586-91. doi: 10.1046/j.1365-2141.1998.00721.x. Br J Haematol. 1998. PMID: 9633906 Free article.
160 results