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GENATLAS PHENOTYPE
last update : 19-09-2013
Symbol HPLH3
Location 17q25
Name hemophagocytic lymphohistiocytosis, familial, 3
Corresponding gene UNC13D
Other symbol(s) HMLH, FHL, HLH
Main clinical features
  • fatal disorder of immune dysregulation with defective cytotoxic lymphocyte function
  • in association with fever, hepatosplenomegaly, pancytopenia, coagulation abnormality, liver dysfunction, and features of hemophagocytosis in the bone marrow or cerebrospinal fluid
  • early onset of overwhelming activation of T lymphocytes and macrophages and detection of activated CD8 -positive T lymphocytes in peripheral blood
    • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name Munc13-4
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
          among which nonsense mutations ((R214X, R83X and W382X), deletion resulting in a frame-shift starting at codon 782, splice mutation (exon 28), and one missense mutation (R928P)
    Remark(s) biallelic UNC13D mutations were found in 18% of the PRF1/STX11-negative FHL families