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GENATLAS PHENOTYPE
last update : 13-06-2012
Symbol HPLH2
Location 10q22.1
Name hemophagocytic lymphohistiocytosis, familial, 2
Corresponding gene PRF1
Other symbol(s) HMLH2, FHL2
Main clinical features
  • onsey in early childhood manifested by hypercytokinemia and organ infiltration of macrophages and activated lymphocytes, and with a fulminant clinical course, characterized by hyperactivation and proliferation of T cells and macrophages, fever, hepatosplenomegaly, cytopenia, coagulation defect, liver dysfunction, invariably lethal unless treated by bone marrow transplantation
    • Genetic determination autosomal recessive
    Prevalence 20 to 40 p100 of familial hemophagocytic lymphohistiocytosis (PMID: 17311987)
    Function/system disorder hematology
    defense and immunity
    Type disease
    Gene product
    Name perforin 1 (PRF1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein W374X, proeminent muaution in Turkish patients
    Remark(s) mutant with impaired perforin-dependent cytotoxic function (Ctx(-)) develop a fatal inflammatory disorder called hemophagocytic lymphohistiocytosis (HLH) (PMID: 21606480))
    Genotype/Phenotype correlations PRF1 mutations had higher risk of early onset (age <6 months) compared to patients carrying STX11 mutations (PMID: 18710388))