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).
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)
genetic immunodeficiencies (constitutional immunodeficiencies)