Article
A partial form of recessive STAT1 deficiency in humans.
The Journal of clinical investigation - 1 Jun 2009
Chapgier Ariane, Kong Xiao-Fei, Boisson-Dupuis Stéphanie, Jouanguy Emmanuelle, Averbuch Diana, Feinberg Jacqueline, Zhang Shen-Ying, Bustamante Jacinta, Vogt Guillaume, Lejeune Julien, Mayola Eleonore, de Beaucoudrey Ludovic, Abel Laurent, Engelhard Dan, Casanova Jean-Laurent
Abstract excerpt
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. Here we report a recessive form of partial STAT1 deficiency, characterized by impaired but not abolished IFN-alpha/beta and IFN-gamma signaling....
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