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J Pediatr Genet 2013; 02(02): 091-096
DOI: 10.3233/PGE-13053
Case Report
Georg Thieme Verlag KG Stuttgart – New York

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

Filip Haenen
a   Department of General Surgery, AZ Erica, Geel, Belgium
,
Marielle Alders
b   Institute of Human Genetics, University of Amsterdam, Academisch Medisch Centrum, Amsterdam, The Netherlands
,
Elke Dierckx
c   Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium
,
Paul Van Schil
d   Department of Thoracic and Vascular Surgery, Antwerp University Hospital, University of Antwerp, Edegem, Belgium
,
Veronique Demeulemeester
c   Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium
,
Geert Mortier
e   Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium
,
Kristine Desager
c   Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium
› Author Affiliations
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Further Information

Publication History

10 September 2011

19 May 2013

Publication Date:
27 July 2015 (online)

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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.

Keywords

MeSH - STAT3 transcription factor - hyper-Ig E syndrome - autosomal dominant - allergy - immunology - child