A young man with hyperimmunoglobulin-E syndrome and IgA and IgG deficiencies.
Hyperimmunoglobulin E syndrome (HIES) with recurrent infection is a rare primary immunodeficiency characterized by the clinical triad of recurrent staphylococcal abscesses, cyst-forming pneumonia and an elevated serum immunoglobulin (Ig)E level. We report an 18-year-old man with recurrent chest infections, skin infections and dermatitis. On examination, he had the characteristic facies of HIES: high arched palate, webbing between his thumb and index finger bilaterally, and extensive scarring from multiple staphylococcal skin abscesses. He had an elevated IgE level of 14 300 kU/L. IgA and IgG deficiencies were also identified, which are rare associations of this syndrome and complicated the patient's treatment. The coexistence of HIES, IgA and IgG deficiencies has, to our knowledge, not been reported previously in the literature.
Fuller
K
K
Department of Dermatology, Royal Adelaide Hospital, Adelaide, SA, Australia. fullerak@optusnet.com.au
Pearce
A
A
Raftos
J
J
D000293:Adolescent; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D006801:Humans; D017098:IgA Deficiency / Q000150:complications*; D017099:IgG Deficiency / Q000150:complications*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007589:Job Syndrome / Q000150:complications* / Q000276:immunology / Q000628:therapy; D008297:Male; D013203:Staphylococcal Infections / Q000150:complications / Q000188:drug therapy
D000900:Anti-Bacterial Agents; D016756:Immunoglobulins, Intravenous