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Primary immunodeficiency mutation databases.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Vihinen M, et al. Among authors: schumacher rf. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
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: schumacher rf. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 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. Prenat Diagn. 1999 Jul;19(7):653-6. Prenat Diagn. 1999. PMID: 10419614
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: schumacher rf. 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.
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF. Notarangelo LD, et al. Among authors: schumacher rf. Immunol Rev. 2000 Dec;178:39-48. doi: 10.1034/j.1600-065x.2000.17812.x. Immunol Rev. 2000. PMID: 11213805 Review.
97 results