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.

Synonym(s): familial erythrophagocytic lymphohistiocytosis

Farlex Partner Medical Dictionary © Farlex 2012

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.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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FMLH

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

Familial hemophagocytic lymphohistiocytosis with A665G perforin gene mutation: a case report / A665G Perforin Gen Mutasyonu Olan Ailesel Hemofagositik Lenfohistiyositozis: Bir Olgu Sunumu

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.

Hemophagocytic Syndromes and Infection

Familial hemophagocytic lymphohistiocytosis: Clinical and neuroradiological findings and review of the literature.

Central Nervous System Involvement in 179 Chinese Children with Hemophagocytic Lymphohistiocytosis

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-[alpha] promoter polymorphism on acquired hemophagocytic lymphohistiocytosis / Perforin geninde A91V frekansi ve tumor nekrozis-[alpha] faktor promotor polimorfizminin edinsel hemofagositik lenfohistiositoza etkisi

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?

Clinical and laboratory data of primary hemophagocytic lymphohistiocytosis: a retrospective review of the Turkish Histiocyte Study Group / Primer hemofagositik lenfohistiositozisli hastalarin klinik ve labarotuvar verileri; Turk Histiosit calisma grubunun retrospektif derlemesi