Ontology highlight
ABSTRACT:
SUBMITTER: Chapgier A
PROVIDER: S-EPMC2689115 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Chapgier Ariane A Kong Xiao-Fei XF Boisson-Dupuis Stéphanie S Jouanguy Emmanuelle E Averbuch Diana D Feinberg Jacqueline J Zhang Shen-Ying SY Bustamante Jacinta J Vogt Guillaume G Lejeune Julien J Mayola Eleonore E de Beaucoudrey Ludovic L Abel Laurent L Engelhard Dan D Casanova Jean-Laurent JL
The Journal of clinical investigation 20090511 6
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. Two affected siblings suffered from severe but curable intracellular bacterial and vir ...[more]