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Article: Reports from Rockefeller University add new data to research in clinical investigation.
- Article from:
- Health & Medicine Week
- Article date:
- August 10, 2009
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"Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-alpha/beta and IFN-gamma. Affected children suffer from lethal intracellular bacterial and viral diseases," scientists writing in the Journal of Clinical Investigation report (see also Clinical Investigation).
"Here we report a recessive form of partial STAT1 deficiency, characterized by impaired but not abolished IFN-alpha/beta and IFN-gamma signaling. Two affected siblings suffered from severe but curable intracellular bacterial and viral diseases. Both were homozygous for a missense STAT1 mutation: ...