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STAT mutation

Jonathan B Weitzman

Genome Biology 2001, 2:spotlight-20010712-03  doi:10.1186/gb-spotlight-20010712-03

The electronic version of this article is the complete one and can be found online at:

Published:12 July 2001

© 2001 BioMed Central Ltd

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Susceptibility to mycobacterial disease leads to severe clinical infections and has been associated with mutations in proteins involved in interferon-gamma signalling. In the July 13 Science, Dupuis et al., from the Hôpital Necker-Enfants Malades in Paris, report the identification of a mutation in the human STAT1 gene that affects susceptibility to mycobacterial but not viral disease (Science 2001, 293:300-303). The heterozygous germline mutation, causing a leucine to serine substitution (L706S), affects STAT1 phosphorylation and nuclear accumulation upon stimulation by interferons. Transfection studies showed that the L706S allele exerts a dominant-negative affect on the wild-type STAT1 allele in inducing gamma-activating factor (GAF) transcriptional activity. The clinical phenotype of the STAT1-mutant patients suggests that anti-mycobacterial immunity involves specific STAT1-dependent interferon-gamma signalling pathways.


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    Familial atypical mycibacteriosis

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  3. [http:/ / structure/ infoshopital.asp?hopital=061&champs =presentation] webcite

    Hôpital Necker-Enfants Malade