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GENATLAS PHENOTYPE

last update : 31/08/2006

Symbol	PFD
Location	Xp11.3-p11.23
Name	properdin deficiency
Other name(s)	properdin P factor deficiency
Corresponding gene	CFP
Main clinical features	susceptibility to infections, recurrent, neisserial, meningococcemia fulminans (properdin types I, complete absence, and II, <10% level)
Genetic determination	sex linked
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	properdin P factor, complement (PFC)