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.

familial hemophagocytic lymphohistiocytosis

Etymology: L, familia, household; Gk, histion, web, kytos, cell; L, reticulum, little net; Gk, osis, condition
an autosomal-recessive disease, characterized by anemia, granulocytopenia, and thrombocytopenia. Phagocytosis of blood cells and infiltration of bone marrow by macrophages commonly cause death in childhood. Also called familial hemophagocytic reticulosis.

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 ?
Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
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.
A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis.

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