Title
A STAT3 mutation in hyper-immunoglobulin E syndrome : a case report
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Subject
Human medicine
Source (journal)
Journal of pediatric genetics
Volume/pages
2(2013) :2 , p. 91-96
ISSN
2146-4596
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Hyper-immunoglobulin E syndrome (HIES) is a rare immunologic disorder. This syndrome is caused by mutations in signal transducer and activator of transcription 3 gene. The described case report showed clinical HIES features such as recurrent bacterial pneumonia, lung cysts, characteristic facial features and a newborn dermatitis. We found a clinical features score of 35 and a positive family history, which, together, made a HIES diagnosis very probable. During DNA analysis, a new, formerly unknown, 1067C→G (p.P356R) mutation, with reference sequence NM_139276.2, was found in the DNA binding site of the STAT3 gene. Both the child and his mother were affected. Thus, this family is affected by the autosomal dominant, HIES. This case report reveals a formerly unknown mutation, 1067C→G (p.P356R) in this gene.
E-info
https://repository.uantwerpen.be/docman/iruaauth/2b8830/771d498eed5.pdf
Handle