Disorders

Autosomal Dominant Hyper IgE Syndrome

Synonym(s): AD-HIES, Job Syndrome, Job's Syndrome, STAT3 Deficiency, STAT3 Deficient Hyper IgE Syndrome, STAT3-Deficient Hyper IgE Syndrome

GeneReview OMIM

Gene	Locus	Protein
STAT3	17q21	Signal transducer and activator of transcription 3

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic	• Sequence analysis of select exons
CGC Genetics - Porto, Portugal
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
National Jewish Health, Advanced Diagnostic Laboratories (ADx) - Denver, CO, USA	• Sequence analysis of select exons
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Protein expression
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.