Affordable Access

deepdyve-link
Publisher Website

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.

Authors
  • Sundin, Mikael1
  • Tesi, Bianca
  • Sund Böhme, Maria
  • Bryceson, Yenan T
  • Pütsep, Katrin
  • Chiang, Samuel C
  • Thunberg, Sarah
  • Winiarski, Jacek
  • Wikström, Ann-Charlotte
  • 1 Hematology/Immunology/SCT Section, Astrid Lindgren Children's, Karolinska University Hospital, Stockholm, Sweden, [email protected] , (Sweden)
Type
Published Article
Journal
Journal of Clinical Immunology
Publisher
Springer-Verlag
Publication Date
May 01, 2014
Volume
34
Issue
4
Pages
469–477
Identifiers
DOI: 10.1007/s10875-014-0011-x
PMID: 24627079
Source
Medline
License
Unknown

Abstract

A novel heterozygous STAT3 mutation causing defective splicing of exon 12 was identified. Lymphocyte phenotyping revealed deranged subpopulations. Despite the clinical picture with severe C. albicans and staphylococcal infections, the patient's lymphocytes mounted responses to these pathogens. The hypereosinophilia and high immunoglobulin E levels might partly be explained by elevated IL-5 and -13 as a result of lack of negative feedback from defective STAT3 signaling.

Report this publication

Statistics

Seen <100 times