hyper IgE recurrent infection syndrome autosomal recessive

Epidemiology

rare

Pathology

• immunodeficiency
• lack of connective tissue involvement or skeletal involvement

Genetics

• autosomal recessive
• associated with defects in DOCK8

Clinical manifestations

• recurrent infections
• eczema

Laboratory

• serum IgE is increased
• eosinophils in blood: eosinophilia

More general terms

• genetic disease of the immune system

Database

• OMIM: https://mirror.omim.org/entry/243700