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GENATLAS PHENOTYPE

last update : 04-09-2017

Symbol	IMD20
Location	1q23.3
Name	Immunodeficiency 20
Corresponding gene	FCGR3A
Main clinical features	primary immunodeficiency characterized by functional deficiency of NK cells; patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) IMD20 patient NK cells exhibited deficient spontaneous cell cytotoxicity
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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