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GENATLAS PHENOTYPE

last update : 06-09-2017

Symbol	IMD40
Location	5q35.1
Name	Immunodeficiency 40
Corresponding gene	DOCK2
Main clinical features	primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function; onset of severe invasive bacterial and viral infections in early childhood invasive bacterial and viral infections associated with T-cell lymphopenia
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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