A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.
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.
Department of General Surgery, AZ Erica, Geel, Belgium.
Filip
F
Haenen
Institute of Human Genetics, University of Amsterdam, Academisch Medisch Centrum, Amsterdam, The Netherlands.
Marielle
M
Alders
Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
Elke
E
Dierckx
Department of Thoracic and Vascular Surgery, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
Paul Van
PV
Schil
Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
Veronique
V
Demeulemeester
Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
Geert
G
Mortier
Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
Kristine
K
Desager
MeSH; STAT3 transcription factor; allergy; autosomal dominant; child; hyper-Ig E syndrome; immunology