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GENATLAS PHENOTYPE

last update : 13-09-2017

Symbol	IMD51
Location	22q11.1
Name	Immunodeficiency 51
Corresponding gene	IL17RA
Main clinical features	primary immune deficiency, usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life, also show recurrent Staphylococcal skin infections, and increased susceptibility to chronic bacterial respiratory infections patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms,
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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