Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Keyword - Familial hemophagocytic lymphohistiocytosis (KW-0951)


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.


  • FHL
  • Hemophagocytic lymphohistiocytosis
  • HPLH




Familial hemophagocytic lymphohistiocytosisDisease
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again