TY - JOUR
T1 - Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients
AU - Muralitharan, Shanmugakonar
AU - Wali, Yasser A.
AU - Dennison, David
AU - Lamki, Zakia A.
AU - Zachariah, Mathew
AU - Nagwa, El Banna
AU - Pathare, Anil
AU - Krishnamoorthy, Rajagopal
PY - 2007/12
Y1 - 2007/12
N2 - 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.
AB - 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.
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U2 - 10.1002/ajh.21009
DO - 10.1002/ajh.21009
M3 - Article
C2 - 17674359
AN - SCOPUS:36749027637
SN - 0361-8609
VL - 82
SP - 1099
EP - 1102
JO - American Journal of Hematology
JF - American Journal of Hematology
IS - 12
ER -