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

Ericson K., Fadeel B., Andersson M., Gudmundsson G., Gurgey A., Yalman N., ...More

HUMAN GENETICS, vol.112, no.1, pp.98-99, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 112 Issue: 1
  • Publication Date: 2003
  • Doi Number: 10.1007/s00439-002-0841-0
  • Journal Name: HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.98-99
  • Hacettepe University Affiliated: Yes


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.