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Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L. Brugnoni D, et al. Among authors: villa a. Blood. 1998 Feb 1;91(3):949-55. Blood. 1998. PMID: 9446656 Free article.
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F. Bozzi F, et al. Among authors: villa a. Br J Haematol. 1998 Sep;102(5):1363-6. doi: 10.1111/j.1365-2141.1998.tb08990.x. Br J Haematol. 1998. PMID: 9753072 Free article.
Prenatal diagnosis of JAK3 deficient SCID.
Schumacher RF, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo LD. Schumacher RF, et al. Among authors: villa a. Prenat Diagn. 1999 Jul;19(7):653-6. Prenat Diagn. 1999. PMID: 10419614
RAG and RAG defects.
Notarangelo LD, Villa A, Schwarz K. Notarangelo LD, et al. Among authors: villa a. Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9. Curr Opin Immunol. 1999. PMID: 10448134 Review.
Recombinase activating gene enzymes of lymphocytes.
Notarangelo LD, Santagata S, Villa A. Notarangelo LD, et al. Among authors: villa a. Curr Opin Hematol. 2001 Jan;8(1):41-6. doi: 10.1097/00062752-200101000-00008. Curr Opin Hematol. 2001. PMID: 11138625 Review.
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R. Cavadini P, et al. Among authors: villa a. J Clin Invest. 2005 Mar;115(3):728-32. doi: 10.1172/JCI23087. J Clin Invest. 2005. PMID: 15696198 Free PMC article.
Damaging-agent sensitivity of Artemis-deficient cell lines.
Musio A, Marrella V, Sobacchi C, Rucci F, Fariselli L, Giliani S, Lanzi G, Notarangelo LD, Delia D, Colombo R, Vezzoni P, Villa A. Musio A, et al. Among authors: villa a. Eur J Immunol. 2005 Apr;35(4):1250-6. doi: 10.1002/eji.200425555. Eur J Immunol. 2005. PMID: 15770702 Free article.
1,824 results