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Article

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

15 Sept 2010

Abstract excerpt

Autosomal recessive STAT1 deficiency is associated with impaired cellular responses to interferons and susceptibility to intracellular bacterial and viral infections. We report here a new form of partial STAT1 deficiency in 2 siblings presenting mycobacterial and viral diseases. Both carried a homozygous missense mutation replacing a lysine with an asparagine residue at position 201 (K201N) of STAT1. This...

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PMID: 20841510
DOI: 10.1182/blood-2010-04-280586

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