Abstract
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perforin were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution
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Antigens, Differentiation, T-Lymphocyte / chemistry
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Antigens, Differentiation, T-Lymphocyte / genetics*
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Base Sequence
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Child
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Female
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Genetic Variation
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Granzymes
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Histiocytosis, Non-Langerhans-Cell / genetics*
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Histiocytosis, Non-Langerhans-Cell / immunology
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Histiocytosis, Non-Langerhans-Cell / physiopathology
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Humans
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Macrophages / immunology
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Male
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Membrane Glycoproteins / genetics
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Mutation
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Pedigree
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Perforin
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Polymorphism, Genetic
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Pore Forming Cytotoxic Proteins
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Sequence Analysis, DNA*
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Serine Endopeptidases / chemistry
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Serine Endopeptidases / genetics*
Substances
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Antigens, Differentiation, T-Lymphocyte
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GNLY protein, human
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Membrane Glycoproteins
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Pore Forming Cytotoxic Proteins
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Perforin
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GZMB protein, human
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Granzymes
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Serine Endopeptidases