haemophagocytic lymphohistiocytosis, familial, type 5

(redirected from FHL5)

haemophagocytic lymphohistiocytosis, familial, type 5

A rare autosomal recessive disorder (OMIM:613101) characterised by immune dysregulation with hypercytokinaemia, defective NK cell activity, and massive infiltration of several organs by activated lymphocytes and macrophages.

Clinical findings
Fever, hepatosplenomegaly, cytopenia; less commmonly, neurologic defects ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

Molecular pathology
Defects in STXBP2, which encodes a protein involved in intracellular vesicle trafficking from the Golgi apparatus to the plasma membrane, cause familial haemophagocytic lymphohistiocytosis type 5.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Recently, mutations in STXB2, which encode syntaxin binding protein 2 (Mune 18-2) and cause impaired protein expression and impaired NK-cell cytotoxic granule exocytosis, were also described (FHL5) (6-12).