Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with STAT3 Hyper IgE Syndrome

System/ConcernEvaluationComment
Skin Dermatologic examNewborn rash & eczema during childhood; often improves w/age
Pulmonary Chest imagingDetection of bronchiectasis & pneumatoceles
Skeletal Eval for scoliosis & osteoporosis
  • Scoliosis typically progresses through adolescence.
  • Osteoporosis can be present in children & adults; DXA screening recommended.
Dental Dental exam for possible retention of primary teeth
Vascular Screening for coronary artery & cerebral artery aneurysms
  • Aneurysms much more common in adults than in children
  • Screening by brain MRA & heart CTA or coronary artery MRA every 3 yrs recommended for adolescents & adults
Other Consultation w/clinical geneticist &/or genetic counselor

DXA = dual-energy x-ray absorptiometry

From: STAT3 Hyper IgE Syndrome

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