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Page 1
Unexpected and variable phenotypes in a family with JAK3 deficiency.
Frucht DM, Gadina M, Jagadeesh GJ, Aksentijevich I, Takada K, Bleesing JJ, Nelson J, Muul LM, Perham G, Morgan G, Gerritsen EJ, Schumacher RF, Mella P, Veys PA, Fleisher TA, Kaminski ER, Notarangelo LD, O'Shea JJ, Candotti F. Frucht DM, et al. Among authors: notarangelo ld. Genes Immun. 2001 Dec;2(8):422-32. doi: 10.1038/sj.gene.6363802. Genes Immun. 2001. PMID: 11781709
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: notarangelo ld. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.
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: notarangelo ld. Blood. 1998 Feb 1;91(3):949-55. Blood. 1998. PMID: 9446656 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: notarangelo ld. 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.
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: notarangelo ld. 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.
766 results