The hyperimmunoglobulin E syndrome.
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.
Hsu
Chen-Tong
CT
Department of Pediatrics, Yung Ho Branch, Cardinal Tien Hospital, Taipei, Taiwan, ROC.
Lin
Yu-Tsan
YT
Yang
Yao-Hsu
YH
Chiang
Bor-Luen
BL
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
D007073:Immunoglobulin E