Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant

Alternative Names

  • HIES1
  • Hyper-IgE Syndrome, Autosomal Dominan
  • HIES, Autosomal Dominant
  • Job Syndrome
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

147060

Mode of Inheritance

Autosomal dominant

Gene Map Locus

17q21.2

Description

Autosomal Dominant HIES is a rare multisystem primary immunodeficiency syndrome characterized by elevetd serum IgE levels, eczema, pyogenic skin and lung infections, and distinctive facial features. Causal mutations in the STAT3 gene have been identified ins everal patients with his condition. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
147060.1LebanonFemaleNo Abnormal circulating IgE level; Eczema;...NM_139276.3:c.1384_1386GTG[1]HeterozygousAutosomal, DominantJiao et al, 2008 de novo mutation
147060.2LebanonMaleNo Abnormal circulating IgE level; Eczema;...NM_003150.3:c.1909G>AHeterozygousAutosomal, DominantJiao et al, 2008 de novo mutation
147060.3United Arab EmiratesFemaleYesNo Eczema; Invasive pulmonary aspergillosis...NM_139276.3:c.1979T>CHeterozygousAutosomal, DominantAlsamri et al. 2020 Atopy reported in fa...
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