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GENATLAS PHENOTYPE

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

Remark(s)

mutations in WDR1 affect neutrophil morphology, motility, and function, causing a novel primary immunodeficiency (PMID: 27557945))