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Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

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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.

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Authors and Affiliations

  1. Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden, , , , ,

    Kim Ericson & Jan-Inge Henter

  2. Clinical Genetics Unit, Department of Molecular Medicine, CMM L8:02, Karolinska Hospital, S-171 76 Stockholm, Sweden, , , , ,

    Magnus Nordenskjöld

  3. Division of Toxicology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, , , , ,

    Bengt Fadeel

  4. Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden, , , , ,

    Mats Andersson

  5. Microbiology and Tumorbiology Center, Karolinska Institutet, Stockholm, Sweden, , , , ,

    Gudmundur H. Gudmundsson

  6. Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey, , , , ,

    Aytemiz Gürgey

  7. Department of Pediatric Oncology, Istanbul School of Medicine, Istanbul, Turkey, , , , ,

    Nevin Yalman

  8. Department of Hematology and Oncology, Children's University Hospital, Hamburg, Germany, , , , ,

    Gritta Janka

Authors
  1. Kim Ericson
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  2. Bengt Fadeel
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  3. Mats Andersson
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  4. Gudmundur H. Gudmundsson
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  5. Aytemiz Gürgey
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  6. Nevin Yalman
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  7. Gritta Janka
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  8. Magnus Nordenskjöld
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  9. Jan-Inge Henter
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Ericson, K., Fadeel, B., Andersson, M. et al. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. Hum Genet 112, 98–99 (2003). https://doi.org/10.1007/s00439-002-0841-0

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  • DOI: https://doi.org/10.1007/s00439-002-0841-0

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