haemophagocytic lymphohistiocytosis, familial, type 1

(redirected from FHL1)

haemophagocytic lymphohistiocytosis, familial, type 1

A rare autosomal recessive disorder (OMIM:267700) 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
Thought to be caused defects in HPLH1, the HGNC-approved name for the putative gene on cytogenetic band 9q21.3-q22.
References in periodicals archive ?
However effects on expression of 5 other genes, CDKN2C, FHL1, HGF, IL1RL1, CD53, are associated with tumor growth and carcinogenesis.
The blood or saliva test would identify mutations on the FHL1 gene in an effort to diagnose what the researchers have called X-linked myopathy with postural muscle atrophy.
The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle.