Overview

Job's syndrome


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An autosomal dominant syndrome (hyperimmunoglobulin E (hyper-IgE) recurrent infection syndrome, HEIS), caused by mutation in the transcription factor STAT3 (acute-phase response factor), characterized by chronic eczema, recurrent staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures. An autosomal recessive form is probably a distinct entity but shares most features except skeletal involvement. Originally ascribed to defective neutrophil chemotaxis; at one time, but no longer, all patients described were female, with red hair and elevated plasma IgE levels.

Subjects: Medicine and Health.


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