familial hemophagocytic lymphohistiocytosis


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familial hemophagocytic lymphohistiocytosis (FMLH),

an extremely rare, usually fatal disease of childhood characterized by multiorgan infiltration by activated macrophages and lymphocytes. The disease is often familial and appears to be inherited as an autosomal recessive trait.

fa·mil·i·al he·mo·pha·go·cyt·ic lymph·o·his·ti·o·cy·to·sis

(FMLH) (fă-mil'ē-ăl hē'mō-fāg'ō-sit'ik lim'fō-his'tē-ō-sī-tō'sis)
An extremely rare, usually fatal disease of childhood characterized by multiorgan infiltration with activated macrophages and lymphocytes. The disease is often familial and appears to be inherited as an autosomal recessive trait.
Synonym(s): familial erythrophagocytic lymphohistiocytosis.
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References in periodicals archive ?
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 2001; 68: 590-597
Incidence in Sweden and clinical features of' familial hemophagocytic lymphohistiocytosis. Acta Paediatr Scand 1991;80:428-35.
Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A.
Familial hemophagocytic lymphohistiocytosis: Clinical and neuroradiological findings and review of the literature.
Munc 13 (4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Familial hemophagocytic lymphohistiocytosis: how late can the onset be?

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