Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report

Yenicesu I., De Saint Basile G., Emeksiz H. C., DALGIÇ B.

TURKISH JOURNAL OF HEMATOLOGY, vol.29, no.3, pp.265-269, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 3
  • Publication Date: 2012
  • Doi Number: 10.5505/tjh.2012.62134
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.265-269
  • Gazi University Affiliated: Yes


Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocytes and natural killer cells, activation of macrophages and T-lymphocytes, over production of proinflammatory cytokines, and hemophagocytosis. In all, 5 genetic loci have been identified in FHL, and all known affected genes encode critical components of the granule exocytosis pathway, which is essential for the release of cytotoxic granules and proteases that are necessary for targeted cell death. Herein we present an FHL patient with a severe clinical course and a very rare perform gene mutation. The patient was homozygous for A665G mutation. However, the child died in a short period of time. Prenatal diagnosis was performed in the family and the fetus was found to be heterozygous for the mutation.