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• W2009230593 abstract "Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever and hepatosplenomegaly associated with pancytopenia, hypertriglyceridemia and hypofibrinogenemia. Increased levels of cytokines and impaired natural killer activity are biological markers of HLH. HLH can be classified into two distinct forms, including primary HLH, also referred to as familial hemophagocytic lymphohistiocytosis (FHL), and secondary HLH. Although FHL is an autosomal recessive disorder typically occurring in infancy, it is important to clarify that the disease may also occur in older patients. It is now considered that FHL is a disorder of T-cell function; moreover, clonal proliferation of T lymphocytes is observed in a few FHL patients, and cytotoxicity of these T lymphocytes for target cells is usually impaired. In 1999, perforin gene (PRF1) mutation was identified as a cause of 20–30% of FHL (FHL2) cases. In Japan, two specific mutations of PRF1 were also detected. Furthermore, in 2003, MUNC13-4 mutations were identified in some non-FHL2 patients (FHL3). Identification of other genes responsible for remaining cases is a major concern. Hematopoietic stem cell transplantation (HSCT) has been established as the only accepted curative therapy for FHL. Thus, appropriate diagnosis and prompt treatment with HSCT are necessary for FHL patients. Genetic analysis for PRF1 and MUNC13-4 and functional assay of cytotoxic T lymphocytes are recommended to be performed in each patient. In those patients displaying impaired cytotoxic function but lacking genetic defects, samples should be employed for identification of unknown genes. In the near future, an entire pathogenesis should be clarified in order to establish appropriate therapies including immunotherapy, HSCT and gene therapy." @default.
• W2009230593 created "2016-06-24" @default.
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• W2009230593 date "2005-03-01" @default.
• W2009230593 modified "2023-10-18" @default.
• W2009230593 title "Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences" @default.
• W2009230593 cites W147559783 @default.
• W2009230593 cites W1489286522 @default.
• W2009230593 cites W1496938524 @default.
• W2009230593 cites W1542886054 @default.
• W2009230593 cites W1550408695 @default.
• W2009230593 cites W1570845414 @default.
• W2009230593 cites W1589138052 @default.
• W2009230593 cites W1605667399 @default.
• W2009230593 cites W161302449 @default.
• W2009230593 cites W1680389360 @default.
• W2009230593 cites W1969519237 @default.
• W2009230593 cites W1969914430 @default.
• W2009230593 cites W1969953253 @default.
• W2009230593 cites W1970405223 @default.
• W2009230593 cites W1970592114 @default.
• W2009230593 cites W1973427880 @default.
• W2009230593 cites W1974696705 @default.
• W2009230593 cites W1980003220 @default.
• W2009230593 cites W1981182552 @default.
• W2009230593 cites W1981296618 @default.
• W2009230593 cites W1981531114 @default.
• W2009230593 cites W1982865150 @default.
• W2009230593 cites W1985279776 @default.
• W2009230593 cites W1994510176 @default.
• W2009230593 cites W1997268063 @default.
• W2009230593 cites W1999339805 @default.
• W2009230593 cites W2000454164 @default.
• W2009230593 cites W2007361961 @default.
• W2009230593 cites W2008221423 @default.
• W2009230593 cites W2008726620 @default.
• W2009230593 cites W2009583354 @default.
• W2009230593 cites W2011950445 @default.
• W2009230593 cites W2012895860 @default.
• W2009230593 cites W2014575996 @default.
• W2009230593 cites W2015024261 @default.
• W2009230593 cites W2015356893 @default.
• W2009230593 cites W2015477957 @default.
• W2009230593 cites W2015593222 @default.
• W2009230593 cites W2015828718 @default.
• W2009230593 cites W2016344207 @default.
• W2009230593 cites W2017182282 @default.
• W2009230593 cites W2018317401 @default.
• W2009230593 cites W2023791562 @default.
• W2009230593 cites W2025501914 @default.
• W2009230593 cites W2026077515 @default.
• W2009230593 cites W2027215759 @default.
• W2009230593 cites W2030411429 @default.
• W2009230593 cites W2033627010 @default.
• W2009230593 cites W2036382095 @default.
• W2009230593 cites W2037125126 @default.
• W2009230593 cites W2037469410 @default.
• W2009230593 cites W2040030790 @default.
• W2009230593 cites W2040628293 @default.
• W2009230593 cites W2040682268 @default.
• W2009230593 cites W2043874025 @default.
• W2009230593 cites W2047823796 @default.
• W2009230593 cites W2048520028 @default.
• W2009230593 cites W2051722109 @default.
• W2009230593 cites W2053421470 @default.
• W2009230593 cites W2053784823 @default.
• W2009230593 cites W2056924500 @default.
• W2009230593 cites W2059566117 @default.
• W2009230593 cites W2061546795 @default.
• W2009230593 cites W2062733828 @default.
• W2009230593 cites W2062778731 @default.
• W2009230593 cites W2063692659 @default.
• W2009230593 cites W2064706357 @default.
• W2009230593 cites W2066317932 @default.
• W2009230593 cites W2068324509 @default.
• W2009230593 cites W2071929222 @default.
• W2009230593 cites W2072543025 @default.
• W2009230593 cites W2073914550 @default.
• W2009230593 cites W2074174279 @default.
• W2009230593 cites W2075138126 @default.
• W2009230593 cites W2076346890 @default.
• W2009230593 cites W2078136980 @default.
• W2009230593 cites W2080908148 @default.
• W2009230593 cites W2083685529 @default.
• W2009230593 cites W2083725970 @default.
• W2009230593 cites W2085188839 @default.
• W2009230593 cites W2087092951 @default.
• W2009230593 cites W2089905151 @default.
• W2009230593 cites W2091720585 @default.
• W2009230593 cites W2091976139 @default.
• W2009230593 cites W2094052254 @default.

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