Familial hemophagocytic lymphohistiocytosis
cv_term_accession
KW-0951
canonical
uniprot_keyword
KW-0951
canonical
name
Familial hemophagocytic lymphohistiocytosis
uniprot
synonym
FHL
uniprot
synonym
HPLH
uniprot
synonym
Hemophagocytic lymphohistiocytosis
uniprot
definition
Protein which, if defective, causes familial hemophagocytic lymphohistiocytosis. FHL is a genetically heterogeneous, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Hemophagocytosis is a prominent feature of the disease, and non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen and other organs is also found.
uniprot
keywords
is_obsolete
false
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keywords
ontology_id
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uniprot
keywords