A partial form of recessive STAT1 deficiency in humans

Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-α/β and IFN-γ. Affected children suffer from lethal intracellular bacterial and viral diseases. Here we report a recessive form of partial...

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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2009
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2689115/
https://ncbi.nlm.nih.gov/pubmed/19436109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI37083
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