Biallelic mutations in OTULIN define otulipenia [Genetics]

Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with...

from Genetics via xlomafota13 on Inoreader http://ift.tt/2bVOJOB
via IFTTT