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GENATLAS PHENOTYPE

last update : 26/12/2005

Symbol	SCIDJ
Location	19p13.11
Name	severe combined immunodeficiency, T-cell negative, B cell positive, NK cell negative
Corresponding gene	JAK3
Other symbol(s)	SCID
Main clinical features	severe combined immunodeficiency
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	Janus non-receptor tyrosine kinase 3, involved in JAK-STAT signalling

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function	germline mutations, affecting all seven structural JH domains of JAK3

Remark(s)