title: The hyperimmunoglobulin E syndrome.
abstract: Hyperimmunoglobulin E syndrome is a primary immunodeficiency disease characterized by markedly high titers of serum immunoglobulin E (IgE), chronic eczema, recurrent staphylococcal infections, pneumatoceles, reduced neutrophil chemotaxis, and variable impaired T cell function. There are no clinical tools for diagnosis and definitive laboratory investigation. Variability of presentation makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiencies. We report a case of a 6-year-old boy with hyperimmunoglobulin E syndrome with recurrent methicillin-resistant Staphylococcus aureus furunculosis. Physical examination revealed a peculiar facial appearance, pruritic dermatitis, and furunculosis over the scalp, neck, and back. Laboratory investigation revealed mild leukocytosis with eosinophilia, a very high immunoglobulin E level, defective neutrophil chemotaxis, and impaired lymphocyte proliferation to anti-CD3/CD28 monoclonal antibodies. The boy was discharged without incident after 2 weeks of antibiotic therapy and debridement.
authors.affiliation: Department of Pediatrics, Yung Ho Branch, Cardinal Tien Hospital, Taipei, Taiwan, ROC.
authors.forename: Chen-Tong
authors.initials: CT
authors.lastname: Hsu
authors.forename: Yu-Tsan
authors.initials: YT
authors.lastname: Lin
authors.forename: Yao-Hsu
authors.initials: YH
authors.lastname: Yang
authors.forename: Bor-Luen
authors.initials: BL
authors.lastname: Chiang
mesh_terms: D002634:Chemotaxis, Leukocyte; D002648:Child; D024881:Drug Resistance, Bacterial; D004802:Eosinophilia; D005145:Face; D005667:Furunculosis / Q000188:drug therapy / Q000382:microbiology / Q000601:surgery; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007589:Job Syndrome / Q000097:blood / Q000175:diagnosis / Q000276:immunology; D007964:Leukocytosis; D008213:Lymphocyte Activation; D008297:Male; D016106:Methicillin Resistance; D009333:Neck / Q000473:pathology; D012535:Scalp / Q000473:pathology; D013211:Staphylococcus aureus / Q000187:drug effects* / Q000302:isolation & purification
chemical_list: D007073:Immunoglobulin E