Clinical features, diagnosis and therapy of familial haemophagocytic lymphohistiocytosis.
Familial haemophagocytic lymphohistiocytosis (FHL) is an inherited immune deficiency with defective cytotoxicity of natural killer cells and cytotoxic T lymphocytes. A highly stimulated, but ineffective immune response leads to severe hyperinflammation. Clinical and laboratory features are characteristic, but unspecific; thus awareness of FHL is important for early diagnosis. FHL is rapidly fatal without treatment. Standard-of-care therapy is etoposide and corticosteroids, followed by haematopoietic stem cell transplantation (HSCT). CONCLUSION: FHL has become a curable disease with present treatment. Additional cytokine-directed therapy still has to prove its value. Earlier HSCT and less toxic conditioning regimens will lead to improved cure rates.
['Janka|Gritta E|GE|https://orcid.org/0000-0002-5397-3047', 'Aricò|Maurizio|M|']
D016207:Cytokines D018380:Hematopoietic Stem Cell Transplantation D006801:Humans D051359:Lymphohistiocytosis, Hemophagocytic
haemophagocytic lymphohistiocytosis immune deficiency haematopoietic stem cell transplantation cytokines lymphocyte cytotoxicity