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hyper-IgE recurrent infection syndromes

Thursday 30 June 2011

Hyper-IgE recurrent infection syndrome (HIES) is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia.

Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

Types

- STAT3-associated hyper-IgE syndrome (autosomal dominant HIES) (MIM.147060)

  • autosomal dominant HIES is caused by mutation in the STAT3 gene (MIM.102582) (autosomal dominant hyper-IgE recurrent infection syndrome / Job-Buckley syndrome)

- DOCK8 deficiency (autosomal recessive HIES) (MIM.243700),

  • autosomal recessive HIES is caused by mutation in the DOCK8 gene (MIM.611432)

- TYK2 deficiency (tyrosine kinase-2 deficiency) (MIM.611521)

  • TYK2 deficiency is caused by mutation in the TYK2 gene (MIM.176941)

See also

- genetic immunodeficiencies (constitutional immunodeficiencies)