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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients
American Journal of Hematology, Volume 82, No. 12, Year 2007
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Description
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. © 2007 Wiley-Liss, Inc.
Authors & Co-Authors
Wali, Y. Ahmed
Oman, Muscat
Sultan Qaboos University Hospital
Dennison, David J.
Oman, Muscat
Sultan Qaboos University Hospital
Al-Lamki, Zakia M.N.
Oman, Muscat
Sultan Qaboos University Hospital
Zachariah, Mathew
Oman, Muscat
Sultan Qaboos University Hospital
Pathare, Anil Vasant
Oman, Muscat
Sultan Qaboos University Hospital
Krishnamoorthy, Rajagopal
France, Paris
Hôpital Robert-debré Ap-hp
France, Paris
Inserm
Statistics
Citations: 12
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.1002/ajh.21009
ISSN:
10968652
Research Areas
Genetics And Genomics