A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.
نویسندگان
چکیده
2. Kemmeren JM, Algra A, Meijers JC, et al. Effect of secondand third-generation oral contraceptives on the protein C system in the absence or presence of the factor VLeiden mutation: a randomized trial. Blood. 2004;103:927-933. 3. Curvers J, Thomassen MC, Rimmer J, et al. Effects of hereditary and acquired risk factors of venous thrombosis on a thrombin generation-based APC resistance test. Thromb Haemost. 2002;88:5-11. 4. Tans G, van Hylckama Vlieg A, Thomassen MC, et al. Activated protein C resistance determined with a thrombin generation-based test predicts for venous thrombosis in men and women. Br J Haematol. 2003;122:465-470. 5. Rosing J, Tans G, Nicolaes GA, et al. Oral contraceptives and venous thrombosis: different sensitivities to activated protein C in women using secondand third-generation oral contraceptives. Br J Haematol. 1997;97:233-238.
منابع مشابه
A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype
2. Kemmeren JM, Algra A, Meijers JC, et al. Effect of secondand third-generation oral contraceptives on the protein C system in the absence or presence of the factor VLeiden mutation: a randomized trial. Blood. 2004;103:927-933. 3. Curvers J, Thomassen MC, Rimmer J, et al. Effects of hereditary and acquired risk factors of venous thrombosis on a thrombin generation-based APC resistance test. Th...
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Perforin (PRF), a pore-forming protein expressed in cytotoxic lymphocytes, plays a key role in immune surveillance and immune homeostasis. The A91V substitution has a prevalence of 8% to 9% in population studies. While this variant has been suspected of predisposing to various disorders of immune homeostasis, its effect on perforin's function has not been elucidated. Here we complemented, for t...
متن کاملFunctional impact of A91V mutation of the PRF1 perforin gene.
Perforin (PRF1) gene mutations have been associated with Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2). Substitution p.A91V (c.272C>T) in exon 2 was first described as a neutral polymorphism. Nonetheless, recent clinical evidence and functional assays, suggest a potential pathogenic role for p.A91V, especially in compound heterozygous individuals. Moreover, p.A91V homozygosity has b...
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ورودعنوان ژورنال:
- Blood
دوره 104 6 شماره
صفحات -
تاریخ انتشار 2004