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Autosomal dominant hyper-IgE syndrome

Disease definition

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

ORPHA:2314

  • Synonym(s):
    • AD-HIES
    • Autosomal dominant HIES
    • Autosomal dominant hyperimmunoglobulin E syndrome
    • Buckley syndrome
    • Hyperimmunoglobulin E syndrome type 1
    • Hyperimmunoglobulin E-recurrent infection syndrome
    • Job syndrome
    • STAT3 deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D82.4
  • OMIM: 147060
  • UMLS: C2936739  C3489795
  • MeSH: -
  • GARD: 6800
  • MedDRA: -

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