Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

doi:10.1371/journal.pgen.0020131

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Article

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

PLoS genetics - 18 Aug 2006

Chapgier Ariane, Boisson-Dupuis Stéphanie, Jouanguy Emmanuelle, Vogt Guillaume, Feinberg Jacqueline, Prochnicka-Chalufour Ada, Casrouge Armanda, Yang Kun, Soudais Claire, Fieschi Claire, Santos Orchidée Filipe, Bustamante Jacinta, Picard Capucine, de Beaucoudrey Ludovic, Emile Jean-François, Arkwright Peter D, Schreiber Robert D, Rolinck-Werninghaus Claudia, Rösen-Wolff Angela, Magdorf Klaus, Roesler Joachim, Casanova Jean-Laurent

Abstract excerpt

The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1 germline alleles from otherwise healthy patients with mycobacterial disease. The previously reported L706S, like the novel Q463H and E320Q alleles, are intrinsically deleterious for both interferon gamma (IFNG)-induced...

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Identifiers

PMID: 16934001
DOI: 10.1371/journal.pgen.0020131
PMCID: PMC1550284

Genes

STAT1
IFNG

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