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Article

A Novel Mutation in IFN-γ Receptor 2 with Dominant Negative Activity: Biological Consequences of Homozygous and Heterozygous States

1 Sept 2004

Abstract excerpt

We identified two siblings homozygous for a single base pair deletion in the IFN-gammaR2 transmembrane domain (791delG) who presented with multifocal Mycobacterium abscessus osteomyelitis (patient 1) and disseminated CMV and Mycobacterium avium complex infection (patient 2), respectively. Although the patients showed no IFN-gammaR activity, their healthy heterozygous parents showed only partial IFN-gammaR...

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PMID: 15356149
DOI: 10.4049/jimmunol.173.6.4000

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