Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome

Trine H Mogensen; Marianne A Jakobsen; Carsten S Larsen

doi:10.3109/00365548.2012.715750

Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome

Scand J Infect Dis. 2013 Mar;45(3):235-8. doi: 10.3109/00365548.2012.715750. Epub 2012 Sep 19.

Authors

Trine H Mogensen¹, Marianne A Jakobsen, Carsten S Larsen

Affiliation

¹ Department of Infectious Diseases, Aarhus University Hospital, Skejby, Aarhus, Denmark. [email protected]

PMID: 22992060
DOI: 10.3109/00365548.2012.715750

Abstract

Here we describe a patient with hyper-IgE syndrome presenting with recurrent staphylococcal abscesses, pneumonia, and chronic mucocutaneous candidiasis, and report the identification of a novel STAT3 mutation at amino acid position 621, which has not previously been described. In addition, we review the immunological, infectious, and genetic features of hyper-IgE syndrome.

Publication types

Case Reports

MeSH terms

Abscess / genetics
Abscess / immunology
Candidiasis, Chronic Mucocutaneous / genetics
Candidiasis, Chronic Mucocutaneous / immunology
Female
Humans
Job Syndrome / genetics*
Job Syndrome / microbiology
Middle Aged
Mutation*
STAT3 Transcription Factor / genetics*
Staphylococcal Skin Infections / genetics
Staphylococcal Skin Infections / immunology

Substances

STAT3 Transcription Factor