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GENATLAS PHENOTYPE

last update : 30-08-2017

Symbol	IMD10
Location	11p15.4
Name	immunodeficiency 10
Corresponding gene	STIM1
Main clinical features	primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
	dermatology
Type	disease

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