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Hyper-IgE Syndrome

Reference work entry

Hyper-IgE syndrome (HIES) is a rare, hereditary multisystem disorder characterized clinically by hyperimmunoglobulinemia E, recurrent infections, and eczematoid dermatitis. In 1966, Job reported two patients with eczematous dermatitis, recurrent staphylococcal boils, hyperextensible joints, and distinctive coarse facies. In 1972, Buckley et al. expanded the clinical picture by adding elevated immunoglobulin E (IgE).

Synonyms and Related Disorders

Job syndrome

Genetics/Basic Defects

  1. 1.
    Inheritance (Erlewyn-Lajeunnesse 2000)
    1. a.

      Autosomal dominant with variable penetrance and expressivity

       
    2. b.

      Linkage to a region on chromosome 4q21demonstrated in several affected families

       
    3. c.

      An upregulating mutation in the interleukin-4 receptor gene on chromosome 16, demonstrated in some patients with hyper-IgE syndrome

       
    4. d.

      Autosomal recessive hyper-IgE syndrome: a similar but distinct syndrome reported by Renner et al. (2004)

       
     
  2. 2.
    Autosomal dominant hyper-IgE syndrome (AD-HIES): caused by...

Keywords

Preimplantation Genetic Diagnosis Root Resorption Otitis Externa Molluscum Contagiosum Coarse Facies 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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