haemophagocytic lymphohistiocytosis, familial, type 1(redirected from HLH1)
haemophagocytic lymphohistiocytosis, familial, type 1A 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.
Fever, hepatosplenomegaly, cytopenia; less commmonly, neurologic defects ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Thought to be caused defects in HPLH1, the HGNC-approved name for the putative gene on cytogenetic band 9q21.3-q22.
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