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GENATLAS PHENOTYPE

last update : 04-09-2017

Symbol	IMD22
Location	1p35.2
Name	Immunodeficiency 22
Corresponding gene	LCK
Main clinical features	in the first months of life with severe diarrhea, oral candidiasis, and failure to thrive lymphopenia and hypogammaglobulinemia, with reduced surface expression of CD4 and CD8 compared to controls and impaired proliferative response to CD3 stimulation
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)