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Hyper-IgE Recurrent Infection Syndrome; Job's Syndrome; HIES
Signal Transducer and Activator of Transcription 3 (STAT3)
Patients with autosomal dominant, STAT3-associated, Hyper-IgE Syndrome have lifelong eczema, usually from birth, and recurrent staphylococcal skin abscesses (recalling the infliction of the biblical character Job) with Serum IgE levels that are characteristically at least 10-fold elevated. Patients are prone to cyst-forming pneumonia (typically staph, hemophilus or pneumococcal) and mucocutaneous candidiasis. The face may be coarse and asymmetric. Non-traumatic fractures and scoliosis are typical, and dental deciduation is delayed.
STAT3 mutations are the predominant cause of Hyper-IgE Syndrome (HIES). If a mutation is present in the STAT3 gene, sequence analysis as performed at GeneDx is expected to detect 99% of the mutations identifiable by sequencing.
Testing for STAT3 mutations is performed on DNA obtained from blood or buccal specimens by bi-directional sequencing of exons 13 –16, 20 and 21 and their intron/exon boundaries.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
STAT3; Hyper IgE; Hyper IgE Syndrome; Hyper IGE; hyper ige; skin abscesses; Job; Jobe; staphylococcal; Staphylococal; cold abscesses; cyst-forming pneumonia; pneumonia; mucocutaneous candidiasis; scoliosis; delayed dental deciduation
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