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

Article type: Other

Authors: Haenen, Filip; | Alders, Marielle | Dierckx, Elke | Van Schil, Paul | Demeulemeester, Veronique | Mortier, Geert | Desager, Kristine

Affiliations: Department of General Surgery, AZ Erica, Geel, Belgium | Institute of Human Genetics, University of Amsterdam, Academisch Medisch Centrum, Amsterdam, The Netherlands | Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium | Department of Thoracic and Vascular Surgery, Antwerp University Hospital, University of Antwerp, Edegem, Belgium | Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium

Note: [] Corresponding author: Filip Haenen, Antwerp University Hospital, Wilrijkstraat 10, 2650 Edegem, Belgium. Tel.: +32 3821 3000; Fax: +32 3830 2305; E-mail: filip.haenen@uza.be.

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

DOI: 10.3233/PGE-13053

Journal: Journal of Pediatric Genetics, vol. 2, no. 2, pp. 91-96, 2013

Received 10 September 2011
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Revision received 18 May 2013
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Accepted 19 May 2013
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Published: 2013
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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.