Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients

Shanmugakonar Muralitharan, Yasser A. Wali, David Dennison, Zakia A. Lamki, Mathew Zachariah, El Banna Nagwa, Anil Pathare, Rajagopal Krishnamoorthy

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Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive immune disorder, character ized by fever, hepatosplenomegaly, pancytopenia, hypertriglyceridemia, hypofibrinogenemia, markedly ele vated levels of inflammatory cytokines, and impaired cytotoxic activity of lymphocytes. FHL is often fatal in early infancy. Histologic features include organ infiltration by activated macrophages and lymphocytes. Four genetic loci (FHL1, 2, 3, and 4) have been identified, of which FHL2 involves mutations in the perforin gene and is present in 20-50% of patients with FHL. We herein report the first comprehensive molecular analysis of 16 unrelated cases of FHL in ethnic Omanis. Using direct DNA sequencing analysis in 11 fami lies, seven different mutations were identified in the coding region of the perforin gene, of which five were novel. Perforin gene defects do not seem to be involved in one-third of the cases of FHL in ethnic Omanis.

Original languageEnglish
Pages (from-to)1099-1102
Number of pages4
JournalAmerican Journal of Hematology
Issue number12
Publication statusPublished - Dec 2007


ASJC Scopus subject areas

  • Hematology

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