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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
General
genetic disease of the immune system
Database Correlations
OMIM 243700
References
OMIM :accession 243700