Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
نویسندگان
چکیده
Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an autosomal recessive disorder of infancy and early childhood that impairs or abolishes lymphocyte cytotoxicity. We report the first case of FHL in an adult patient homozygous for A91V in PRF1 with tuberculosis. The monozygotic twin of the patient is healthy. A91V confers genetic susceptibility for the development of FHL, but is not enough to trigger the disease on its own. We discuss the role of the A91V change together with M. tuberculosis infection as synergistic factors in the late onset of FHL.
منابع مشابه
Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis
Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or ab-sent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocy-tosis in an Iranian family with two siblings. E...
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متن کاملA functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
Up to 60% of cases of the autosomal recessive immunodeficiency hemophagocytic lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this study, we expressed wild-type and mutated perforin in rat basophil leukemia cells to study the effect on lytic function of the substitutions A91V and N252S (commonly considered to be neutral polymorphisms) and 22 perforin miss...
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متن کاملA FUNCTIONAL ANALYSIS OF THE PUTATIVE POLYMORPHISMS A91V AND N252S, AND 22 MISSENSE PERFORIN MUTATIONS ASSOCIATED WITH FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS. Short Title: Analysis of perforin mutations associated with HLH
Up to 60% of cases of the autosomal recessive immunodeficiency, hemophagocytic lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this study, we expressed wild-type and mutated perforin in rat basophil leukemia cells to study the effect on lytic function of the substitutions A91V and N252S (commonly considered to be neutral polymorphisms), and 22 perforin mi...
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عنوان ژورنال:
- Haematologica
دوره 91 9 شماره
صفحات -
تاریخ انتشار 2006