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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-11-2018
Symbol PFIT
Location 4p16.1
Name autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Corresponding gene WDR1
Main clinical features
  • periodic fevers with immunodeficiency and thrombocytopenia, with impaired actin dynamics in patient immune cells
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
  • mutations in WDR1 affect neutrophil morphology, motility, and function, causing a novel primary immunodeficiency (PMID: 27557945))